@article {pmid41691323,
year = {2026},
author = {Xiang, W and Luan, Y and Chen, K and He, T and Zhou, Q and Yang, H},
title = {Genetic insights into biological aging and myasthenia gravis: a Mendelian randomization study of telomere length, epigenetic clocks, and mitochondrial DNA copy number.},
journal = {Clinical epigenetics},
volume = {},
number = {},
pages = {},
doi = {10.1186/s13148-026-02083-3},
pmid = {41691323},
issn = {1868-7083},
support = {82171399//National Natural Science Foundation of China/ ; },
abstract = {BACKGROUND: Emerging epidemiological evidence shows myasthenia gravis (MG) is associated with age-related biological processes, but its mechanism of causality remains unexplained. This bidirectional Mendelian randomization (MR) study aimed to clarify the causal relationships between quantifiable biomarkers of aging and MG.

METHODS: We extracted genetic instrumental variables for three aging biomarkers: telomere length, epigenetic clocks, and mitochondrial DNA copy number (mtDNA-CN) and MG from the public GWAS databases. The main causal effect estimates were obtained by the inverse variance weighted method, and supplementary sensitivity analysis was used to evaluate potential heterogeneity and pleiotropy effects.

RESULTS: Overall, genetically predicted HannumAge and mtDNA-CN were associated with MG (OR = 0.909, 95% CI 0.834-0.991, P = 0.030; OR = 1.592, 95% CI 1.025-2.473, P = 0.039), though these associations did not survive false discovery rate (FDR) correction. Subgroup analyses showed a negative causal effect of HannumAge on early-onset MG (EOMG) (OR = 0.775, 95% CI 0.667-0.901, P = 0.001, PFDR =0.005), and a potential positive association of mtDNA-CN with late-onset MG (LOMG) (OR = 1.756, 95% CI 1.030-2.995, P = 0.039, PFDR =0.193). Reverse MR identified that EOMG causally increased epigenetic clocks (PhenoAge: OR = 1.056, 95% CI 1.004-1.111, P = 0.036; GrimAge: OR = 1.098, 95% CI 1.055-1.143, P < 0.001; HannumAge: OR = 1.100, 95% CI 1.058-1.144, P < 0.001), with the GrimAge and HannumAge association remaining significant after FDR correction. No evidence supported causal associations of MG/LOMG with aging biomarkers.

CONCLUSION: Our findings demonstrate a bidirectional causality between EOMG and epigenetic aging clocks, which indicates that there is a self-reinforcing pathophysiological cycle. The epigenetic age acceleration is both a driver and a result of the progression of EOMG. The correlation between mtDNA-CN and LOMG suggests that there may be a potential compensatory adaptation mechanism to combat chronic oxidative stress in age-related autoimmunity. These results highlight the complex and subtype-dependent contributions of biological aging to the autoimmune-mediated pathology of MG, and provide key mechanistic insights into the subtype-specific aging in MG.},
}

@article {pmid41690996,
year = {2026},
author = {Yin, S and Wang, H and Chu, H and Zhang, Y and Luo, C and Xu, Y and Gao, Y},
title = {A telomere-to-telomere genome assembly of Castanopsis orthacantha (Fagaceae).},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-026-06787-2},
pmid = {41690996},
issn = {2052-4463},
support = {202401BA070001-126//Applied Basic Research Key Project of Yunnan (Applied Basic Research Key Project of Yunnan Province)/ ; 2024J0937//Yunnan Provincial Department of Education (Department of Education, Yunnan Province)/ ; },
abstract = {This study reported the first telomere-to-telomere (T2T) genome assembly of Castanopsis orthacantha, a keystone tree species with significant ecological and economic values endemic to the subtropical evergreen forests of southwestern China. Using multi-platform sequencing data and high-throughput chromosome conformation capture (Hi-C) scaffolding, we successfully generated a chromosome-scale assembly. The final assembly spanned 893.28 Mb, with a contig N50 of 76.19 Mb, indicating a high degree of continuity. Remarkably, 97.94% of the genome was successfully anchored to 12 chromosomes. Terminal telomeric repeat sequences were identified at both ends of all of the chromosomes, and the assembly contained only a single unresolved gap. A total of 35,978 protein-coding genes were detected in the assembly, with an average coding sequence (CDS) length of 1,116.3 bp. Genomic analysis further revealed that repetitive elements comprised 59.28% of the genome. The generation of this near-complete reference genome of C. orthacantha provides a critical genomic resource for advancing evolutionary study within the Fagaceae family and supports conservation genomics strategies aimed at the ecological restoration of this species.},
}

@article {pmid41690428,
year = {2026},
author = {Zhao, Y and Ni, W and Yao, S and Yu, S and Wang, C and Jin, C and Wang, X and Feng, J and Cui, Y and Yu, X and Wang, S and Zhao, D and Xiong, H and Ren, J and Liu, S and Liu, M},
title = {Panax ginseng Meyer Supplementation and Potential Associations with Telomere Length and NAD+/NADH ratio in Middle-Aged Adults: An Exploratory Study.},
journal = {Journal of ethnopharmacology},
volume = {},
number = {},
pages = {121376},
doi = {10.1016/j.jep.2026.121376},
pmid = {41690428},
issn = {1872-7573},
abstract = {In terms of anti-aging, ginseng has the effect of "lightening the body and prolonging the life" since ancient times. Although Panax ginseng Meyer (ginseng) has demonstrated anti-aging associations in experimental studies, clinical validation of its impact on telomere length and nicotinamide adenine dinucleotide (NAD+) / Nicotinamide adenine dinucleotide (NADH) ratio in healthy middle-aged individuals remains lacking.

AIM OF THE STUDY: Exploratory hypothesis-generating study on the association of ginseng on the telomere lengths and NAD+/NADH ratio of middle-aged adults.

METHODS: This study enrolled overweight middle-aged adults aged 45-50 years (Body mass index, BMI >24 kg/m[2]), involving two cohorts: high-dose short-term (6 g/day, 7 days; n=20) and low-dose long-term (3 g/day, 28 days; n=30), then they were followed up at 21 or 28 days after the completion of medication, respectively. Blood samples were collected before and after supplementation, and follow-up period. The primary outcomes: leukocyte telomere length and the NAD[+]/NADH ratio. The secondary outcomes: protection of telomeres 1 (POT1) expression, nicotinamide phosphoribosyltransferase (NAMPT) activities of peripheral blood mononuclear cells (PBMCs), reactive oxygen species (ROS), malondialdehyde (MDA), advanced glycation end-products (AGEs) and lactic acid (LA) levels. and scores on clinical scales [e.g., Pittsburgh sleep quality index (PSQI), Ascertain dementia 8 (AD8), Fatigue scale-14 (FS-14), International index of erectile function-5 (IIEF-5), and Kupperman index)].

RESULTS: The high-dose and low-dose groups showed a significant association with increased telomere length, POT1 expression, NAD+/NADH ratio, and NAMPT activity. The two cohorts also showed a significant association with reduced levels of ROS, MDA, AGEs, and LA, as well as improved scores on all clinical scales. Furthermore, the beneficial effects of the above indicators persisted during the follow-up period.

CONCLUSIONS: Ginseng supplementation is associated with telomere elongation and an increased NAD+/NADH ratio in middle-aged adults, and exerts beneficial effects on human overall health by improving potential biomarkers of aging.},
}

@article {pmid41690124,
year = {2026},
author = {Chang, M and Wilson, PA and Robles, TF},
title = {Family member bereavement, salivary telomere length, and all-cause mortality in older adults: Findings from the Health and Retirement Study.},
journal = {Psychoneuroendocrinology},
volume = {187},
number = {},
pages = {107792},
doi = {10.1016/j.psyneuen.2026.107792},
pmid = {41690124},
issn = {1873-3360},
abstract = {The biological aging mechanisms by which loss exposure relates to mortality are not well-understood, particularly among communities of color. In this pre-registered, longitudinal study, we evaluated whether salivary telomeres mediate associations between loss burden-premature and cumulative exposure to family member deaths over the lifetime-and mortality. Leveraging a prospective sample of 4837 U.S. older adults from the Health and Retirement Study who recorded at least one kin death, we tested whether participants' loss burden related to their salivary telomeres 2 years later (linear regression models) and, in turn, predicted all-cause mortality 14 years later (Cox regression models). Models adjusted for covariates including family size, socioeconomic status, and baseline health including smoking. Telomeres did not mediate relationships between loss burden and mortality. Higher loss burden and shorter telomeres each predicted higher odds of mortality. Unexpectedly in race-stratified models, more childhood loss related to longer telomeres among Hispanic participants, and younger kin deaths related to longer telomeres among Black participants. Findings highlight the limitations of salivary telomeres in explaining racial health disparities and the need to identify biological aging mechanisms after loss among communities of color.},
}

@article {pmid41688479,
year = {2026},
author = {Xue, L and Luo, M and Wang, H and Zhu, W and Chen, D and Zeng, G and Liao, M and Zhao, J and Wu, B and Xu, L and Dong, Z},
title = {Near telomere-to-telomere diploid genome assembly of Acrossocheilus wenchowensis.},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-026-06752-z},
pmid = {41688479},
issn = {2052-4463},
abstract = {Acrossocheilus wenchowensis is a lukewarm-water fish found in southern Chinese mountain streams, valued for both ornamental and edible purposes. We assembled a near telomere-to-telomere (T2T) genome using HiFi, ONT, Hi-C and Illumina data. The assembly is approximately 870.69 Mb with a contig N50 of about 21.28 Mb. Among these, 14 chromosomes in Hap1 and 15 chromosomes in Hap2 have reached T2T levels. A total of 24,909 protein-coding genes were predicted in Hap1 and 24,496 in Hap2, with BUSCO scores of 97.4% and 97.6%, respectively. A conserved centromeric satellite sequence (262 bp) derived from an LTR transposon was identified. Comparative genomics showed that Acrossocheilus and Onychostoma diverged approximately 13.7 million years ago (Mya), while A. wenchowensis diverged from A. fasciatus about 5.25 Mya. Resequencing of four geographic populations of A. wenchowensis revealed distinct genetic structure in the LY group compared to the other populations based on SNP and InDel analysis. This genome provides a framework for diploid T2T studies in fish and supports further functional genomics research.},
}

@article {pmid41685883,
year = {2026},
author = {Wang, Z and Zhao, R and Wang, Y and Zhang, N and Yang, Q and Zhou, Z and Jiang, D and Zhang, X and Yuan, J and Zheng, Y and Song, W and Liu, D and Liu, X and Yuan, K and Tse, G and Lip, GYH and Liu, T and Wang, F},
title = {Telomere Shortening Drives Atrial Fibrillation Through VCAM-1 Mediated Atrial Electrical and Structural Remodeling.},
journal = {Aging cell},
volume = {25},
number = {2},
pages = {e70417},
doi = {10.1111/acel.70417},
pmid = {41685883},
issn = {1474-9726},
support = {32170762//National Natural Science Foundation of China/ ; 82170327//National Natural Science Foundation of China/ ; 82370332//National Natural Science Foundation of China/ ; 31771520//National Natural Science Foundation of China/ ; 92149302//National Natural Science Foundation of China/ ; 82072331//National Natural Science Foundation of China/ ; 82271265//National Natural Science Foundation of China/ ; 19YFZCSY00600//Scientific Research Program of Tianjin Municipal Education Commission 2020KJ200 and the Tianjin Health Research Project/ ; 19JCJQJC63500//Natural Science Foundation of Tianjin city/ ; 23JCZDJC00270//Natural Science Foundation of Tianjin city/ ; 24JCQNJC00820//Natural Science Foundation of Tianjin city/ ; 25JCZDJC00510//Natural Science Foundation of Tianjin city/ ; 2025-JKCS-23//Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences/ ; 2021-I2M-1-042//CAMS innovation Fund for Medical Sciences/ ; 2022-I2M-2-003//CAMS innovation Fund for Medical Sciences/ ; 2022-I2M-2-008//CAMS innovation Fund for Medical Sciences/ ; 2023KJ038//Scientific Research Program of Tianjin Municipal Education Commission/ ; },
mesh = {*Atrial Fibrillation/genetics/physiopathology/metabolism/pathology ; *Vascular Cell Adhesion Molecule-1/metabolism/genetics ; Animals ; Mice ; Humans ; *Atrial Remodeling/genetics ; *Telomere Shortening/genetics ; Male ; *Heart Atria/physiopathology/pathology/metabolism ; Aged ; Female ; Telomerase/deficiency/metabolism/genetics ; Middle Aged ; },
abstract = {Telomere shortening is a hallmark of aging and has been implicated in cardiovascular disease, but its mechanistic link to atrial fibrillation (AF) remains elusive. Using a high-throughput, single-gene-calibrated dot blot assay, we developed to quantify leukocyte telomere length (LTL). In age-stratified analyses, shorter LTL was associated with AF predominantly in individuals younger than 70 years. In telomerase-deficient (TERT[-/-]) mice with telomere dysfunction, higher AF inducibility, atrial electrical conduction slowing, and atrial fibrosis were observed. Transcriptomic profiling revealed significant alterations in extracellular matrix and cell adhesion pathways in response to telomere dysfunction. Subsequent validation identified vascular cell adhesion molecule-1 (VCAM-1) as a potential mediator linking telomere shortening to AF-related atrial remodeling. Functional inhibition of VCAM-1 reversed electrophysiological abnormalities, attenuated atrial fibrosis, normalized ECM gene expression-including Col1α1, α-SMA, and CD168-and reduced AF susceptibility by 30%. These findings establish a telomere-VCAM-1 axis that drives atrial remodeling and arrhythmogenesis in aging, and position VCAM-1 as a candidate therapeutic target for age-related AF.},
}

*Atrial Fibrillation/genetics/physiopathology/metabolism/pathology
*Vascular Cell Adhesion Molecule-1/metabolism/genetics
Animals
Mice
Humans
*Atrial Remodeling/genetics
*Telomere Shortening/genetics
Male
*Heart Atria/physiopathology/pathology/metabolism
Aged
Female
Telomerase/deficiency/metabolism/genetics
Middle Aged

@article {pmid41685785,
year = {2026},
author = {Cai, JH and Shi, YH and Yang, DY and Huang, WY and Liu, Y and Zhong, LT and Zhang, JJ and Gong, Z and Lu, YY and Lin, JH and Li, ML and Li, Z and Chai, GH and Ou, TM and Tan, JH and Huang, ZS and Chen, SB},
title = {An Orally Available Telomeric G-Quadruplex Ligand Induces Telomere Crisis and Dual DNA/RNA-Sensing Innate Immunity for Cancer Therapy.},
journal = {Journal of medicinal chemistry},
volume = {},
number = {},
pages = {},
doi = {10.1021/acs.jmedchem.5c03148},
pmid = {41685785},
issn = {1520-4804},
abstract = {Telomere crisis is a potent intrinsic barrier against unlimited cancer cell proliferation, offering a promising anticancer strategy. While recent work has implicated both the cGAS-STING DNA-sensing and the TERRA-ZBP1 RNA-sensing pathways, revealing new therapeutic opportunities. Here, we report CA11, an orally bioavailable quinazoline derivative, discovered via a G-quadruplex (G4)-focused screening platform. We demonstrate that pharmacological stabilization of telomeric G4s by CA11 provokes a telomere crisis-like phenotype. Mechanistically, these events are associated with the coordinated activation of dual DNA/RNA-sensing innate immune pathways. This dual activation is linked to a potent innate immune response and autophagy, culminating in broad antiproliferative effects across diverse cancer cell lines. In vivo, oral administration of CA11 suppresses tumor growth by enhancing innate immunity, and is well tolerated systemically. Our findings establish CA11 as the first-in-class and orally activated telomeric G4 ligand that pharmacologically induces telomere crisis for cancer therapy.},
}

@article {pmid41685770,
year = {2026},
author = {Valickova, A and Tomasova, K and Balounova, K and Horak, J and Kroupa, M and Hanak, P and Danesova, N and Jungwirth, J and Kral, J and Hucl, T and Kohout, P and Summerova, S and Schneiderova, M and Vodickova, L and Vodicka, P and Vymetalkova, V and Vodenkova, S},
title = {Changes in telomere length and mitochondrial DNA copy number in the colorectal adenoma-carcinoma sequence.},
journal = {Mutagenesis},
volume = {},
number = {},
pages = {},
doi = {10.1093/mutage/geag009},
pmid = {41685770},
issn = {1464-3804},
abstract = {Colorectal adenomas are anomalous growths of the intestinal epithelium and are considered precursors to colorectal cancer (CRC). Identifying early-stage CRC biomarkers is essential for reducing its high mortality rate. This study hypothesizes that the association of telomere length (TL) and mitochondrial DNA copy number (mtDNA-CN) could serve as a biomarker for the adenoma or CRC formation. TL, mtDNA-CN, TERT and TFAM expressions were studied in 132 adenoma and 95 early-stage CRC patients. TL and mtDNA-CN were measured by multiplex quantitative polymerase chain reaction (qPCR). Expression of TERT and TFAM was measured by reverse transcription (RT)-qPCR. Significant TL shortening was observed in adenomas (p=8.96e-14), TNM I (p=3.49e-05), and TNM II (p=2.29e-04) stages compared to the adjacent mucosa. This tendency was also contingent on TERT expression. Differential TFAM expression was observed in all groups, but an elevated relative mtDNA-CN was, compared to the adjacent mucosa, detected only in adenomas (p=1.50e-08), where it correlated with TL (p=4.10e-03). Notably, mtDNA-CN levels were significantly higher in adenomas than in early-stage tumors (TNM I, p=2.00e-02; TNM II, p=2.40e-02), suggesting a progressive decline during tumorigenesis. We have provided fresh insights into the crosstalk between telomere and mitochondrial biology in CRC precursors. These findings hold promise in understanding adenoma formation and CRC progression, as mtDNA-CN elevation and its association with TL were specific to precancerous lesions and were lost with progression to tumor.},
}

@article {pmid41684031,
year = {2026},
author = {Revi Shanker, P and Dorajoo, R},
title = {Molecular Mechanisms of Accelerated Ageing in Geriatric Depression: Interplay of Telomere Attrition, Mitochondrial Dysfunction and Cellular Senescence.},
journal = {International journal of molecular sciences},
volume = {27},
number = {3},
pages = {},
doi = {10.3390/ijms27031613},
pmid = {41684031},
issn = {1422-0067},
mesh = {Humans ; *Cellular Senescence ; *Mitochondria/metabolism/pathology/genetics ; *Aging/genetics/metabolism/pathology ; *Telomere/metabolism/genetics ; *Depression/metabolism/genetics/pathology ; Oxidative Stress ; Aged ; Animals ; *Telomere Shortening ; Biomarkers ; },
abstract = {Late-life depression is a prevalent and debilitating disorder. It differs significantly from depression in younger adults and often co-occurs with cognitive decline and increased physical frailty. This narrative review explores the role of accelerated biological ageing in late-life depression. We examine evidence linking three interconnected processes, namely telomere attrition, mitochondrial dysfunction and cellular senescence, to the pathophysiology of late-life depression. Excessive attrition of telomeres may serve as a biomarker of accumulated stress and cellular ageing. Mitochondrial dysfunction not only reduces energy production but also promotes oxidative stress and inflammation that increase neuroinflammatory pathways and synaptic loss. Increased cellular senescence further induces senescence-associated secretory phenotype factors that drive chronic inflammation and neuronal loss. Together, these processes create a cycle of cellular stress, persistent inflammation and damage to brain circuits involved in late-life depression. We additionally highlight potential limitations in current findings and propose a roadmap for future research to better elucidate the mechanistic dysfunction of late-life depression. These include the need for evaluation in long-term prospective cohort studies, improved tools to better correlate blood-based markers with changes in disease-relevant brain tissues and regions, and trials that test treatment and lifestyle modifications that are targeted at ageing biomarkers.},
}

Humans
*Cellular Senescence
*Mitochondria/metabolism/pathology/genetics
*Aging/genetics/metabolism/pathology
*Telomere/metabolism/genetics
*Depression/metabolism/genetics/pathology
Oxidative Stress
Aged
Animals
*Telomere Shortening
Biomarkers

@article {pmid41681971,
year = {2026},
author = {Genetta, TL and Perez-Medero, JD and Jang, H and Zhang, T and Hussain, BA and Larner, JM},
title = {ZEB1 Promotes Alternate Lengthening of Telomeres at Multiple Levels.},
journal = {Cancers},
volume = {18},
number = {3},
pages = {},
doi = {10.3390/cancers18030499},
pmid = {41681971},
issn = {2072-6694},
support = {1R01CA259054-01A1//NIH USA/ ; },
abstract = {BACKGROUND/OBJECTIVES: Approximately 10-15% of cancers rely on Alternate Lengthening of Telomeres (ALT), which is a telomerase-independent, BIR (Break-Induced Replication)-based pathway for maintaining long-term replicative potential.

METHODS: As ALT is over-represented in mesenchymal-type tumors, we investigated, via RNA-seq, the extent to which the EMT-promoting factor ZEB1 regulates this pathway.

RESULTS: The ALT-associated genes targeted by ZEB1, including PML, RMI2, POLD4, RPA3 (induced), SLX4, and WRN (repressed), in the aggregate, suggest that it regulates ALT at multiple steps in that pathway. ZEB1-deficient cells showed a significant reduction in telomere length as well as in two hallmarks of ALT, C-circle levels and the size and number of ALT-associated PML Bodies (APBs), which are the telomere-aggregating compartments in which BIR occurs. As one of the most highly regulated genetic targets of ZEB1 was the pro-epithelial alternative splicing factor ESRP1, we investigated whether the repression of this factor was required to generate the PML splice variant isoform IV, which is the major structural component of APBs. We found an inverse relationship between the expression of this protein and levels of PML isoform IV mRNA.

CONCLUSIONS: These findings suggest a novel role for ZEB1 in promoting ALT both transcriptionally and post-transcriptionally at multiple levels.},
}

@article {pmid41681962,
year = {2026},
author = {Sarkar, G and Chen, J and Sood, S and Fischer, K and Kossick, K and Schupack, D and Graham, R and Druliner, B and Heydari, Z and Helgeson, L and Cruz Garcia, E and Cawthon, R and Boardman, L},
title = {Leukocyte Telomere Length Variants Are Independently Associated with Survival of Patients with Colorectal Cancer.},
journal = {Cancers},
volume = {18},
number = {3},
pages = {},
doi = {10.3390/cancers18030490},
pmid = {41681962},
issn = {2072-6694},
support = {Individualizing colorectal cancer patient care//Individualizing colorectal cancer patient care/ ; P30DK084567//Clinical Core of the Mayo Clinic Center for Cell Signaling in Gastroenterology/ ; },
abstract = {Background and aims: Aberrations in telomere length can have important implications in cancer. Using a cohort of 1007 patients, we investigated whether leukocyte telomere length (LTL) in patients with colorectal cancer (CRC) is associated with survival. We also investigated whether some telomere maintenance genes are associated with survival in these patients. Methods: The Biobank for Gastrointestinal Health Research (BGHR), an ongoing project involving collection of biospecimens at the Mayo Clinic, was utilized to obtain data from patients diagnosed with stage II or III CRC. Blood samples were collected prior to chemotherapy/radiation and DNA was extracted for measuring median LTL. The main outcome measures were overall survival (OS) and disease-free survival (DFS) by disease stage. Results: A significant inverse relationship was observed with patient age and LTL (spearman correlation coefficient (r) = -0.48, 95%; p = 1.13 × 10[-58]). Females had significantly longer LTL than males (p = 3.97 × 10[-5]). The rs1317082 SNP in the TERC gene was significantly associated with both OS and DFS in combined stage II and stage III patients (p = 0.017 and p = 0.023, respectively). A statistically significant association of the OBFC1 SNP (rs9419958) was observed for OS for the combined stage II and stage III patients (p = 0.016). Importantly, LTL was significantly associated with both OS and DFS (p = 0.008 and 0.044 respectively) in combined stage II and stage III patients. Conclusions: Our results show that LTL is predictive of OS and DFS for stage II and III CRC patients, particularly over a longer follow-up, extending beyond five years after a diagnosis of CRC, and certain SNPs in genes involved in telomere maintenance are significantly associated with patient outcomes, independent of telomere length.},
}

@article {pmid41681008,
year = {2026},
author = {},
title = {Telomere Length, Cortisol, Body Composition, Hemodynamics and Dance: An Exploratory Analysis In 18-to-83-Year-Olds - Corrigendum.},
journal = {Medicine and science in sports and exercise},
volume = {58},
number = {3},
pages = {634},
doi = {10.1249/MSS.0000000000003933},
pmid = {41681008},
issn = {1530-0315},
}

@article {pmid41680222,
year = {2026},
author = {Xu, M and Cui, Y and Kuang, H and Wei, K and Shan, W},
title = {Telomere to telomere level genome assembly of the Yarkand hare (Lepus yarkandensis).},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-026-06815-1},
pmid = {41680222},
issn = {2052-4463},
support = {32260116//National Natural Science Foundation of China (National Science Foundation of China)/ ; 32260116//National Natural Science Foundation of China (National Science Foundation of China)/ ; 32260116//National Natural Science Foundation of China (National Science Foundation of China)/ ; 32260116//National Natural Science Foundation of China (National Science Foundation of China)/ ; },
abstract = {The Yarkand hare (Lepus yarkandensis) is endemic to the Tarim Basin in Xinjiang, China. It is a key species and a critical component of the Tarim Basin ecosystems. However, the lack of a reference genome has hindered evolutionary and genetic studies of this species. Here, we assembled a telomere-to-telomere (T2T) genome of the Yarkand hare (LepYark_1.0) using PacBio HiFi, Nanopore, and Hi-C sequencing. The assembled genome size is approximately 2.70 Gb, with a scaffold N50 of 126.86 Mb. About 94.88% of the assembled sequences could be anchored to 24 pseudo-chromosomes, with a BUSCO assessment indicating a completeness of 99.0%. Repetitive sequences comprise 46.38% of the genome, with short interspersed nuclear elements (SINEs) accounting for the largest proportion. Additionally, we identified 24 centromeres and 46 telomeres. 32,298 protein-coding genes were annotated using de novo prediction and transcriptome data, functionally annotating 85% of them. This genome assembly provides genomic resources for studies on conservation, adaptive evolution and the exploration of genetic basis related to important traits of the Yarkand hare.},
}

@article {pmid41679654,
year = {2026},
author = {Tournoy, TK and D'hulst, S and Demolder, A and Derudder, R and Martens, DS and Mosquera, LM and Coucke, P and De Backer, J},
title = {Telomere length in patients with Marfan Syndrome.},
journal = {International journal of cardiology},
volume = {},
number = {},
pages = {134234},
doi = {10.1016/j.ijcard.2026.134234},
pmid = {41679654},
issn = {1874-1754},
abstract = {BACKGROUND: Marfan syndrome (MFS) is a multisystemic heritable thoracic aortic disease entity characterized by progressive aortic dilatation and life-threatening cardiovascular complications. Chronic inflammation and oxidative stress are increasingly recognized in its pathophysiology, and are important drivers of telomere shortening, a hallmark of biological aging. We hypothesized that adults with MFS have shorter telomere length (TL) compared to healthy controls.

METHODS: Relative average leukocyte TL was measured in 59 adults with molecularly confirmed MFS (median age 38 years, 29 females) and 59 age- and sex-matched healthy controls. TL was determined by a singleplex qPCR assay.

RESULTS: Patients with MFS had shorter TL compared to healthy controls (0.99 ± 0.19 vs. 1.07 ± 0.21, p = 0.033). In univariate analysis, we found that major adverse cardiovascular events (defined as aortic dissection, arrhythmia or heart failure) were associated with shorter TL (β = -0.168, 95%CI -0.291; -0.013, p = 0.008). No other clinical or genetic variables showed significant associations in either the raw or age- and sex-adjusted TL analyses.

CONCLUSION: Adults with MFS have shorter leukocyte TL, and an association was found between shorter TL and severe cardiovascular events. These findings suggest a role for accelerated aging mechanisms in the pathophysiology of the disease.},
}

@article {pmid41679577,
year = {2026},
author = {Dille, Y and Rampakakis, E and Aubert, G and Dassi, C and Mannherz, W and Berrahmoune, S and Srour, M and Buhas, D and Agarwal, S and Myers, KA},
title = {Short telomeres in mitochondrial DNA depletion disorders.},
journal = {Mitochondrion},
volume = {},
number = {},
pages = {102131},
doi = {10.1016/j.mito.2026.102131},
pmid = {41679577},
issn = {1872-8278},
abstract = {Mitochondrial DNA (mtDNA) depletion disorders (MDDs) are rare, genetically diverse conditions marked by a significant reduction in mtDNA, primarily affecting energy-demanding tissues such as muscle, liver, and brain, sometimes leading to catastrophic multisystem failure. In a cohort of patients with MDDs, we measured telomere length in lymphocytes, granulocytes, T cells, and B cells, and compared to healthy controls. Telomere length was shorter overall in patients with MDDs, with the most significant differences observed in granulocytes. The observation that mtDNA depletion is associated with shorter telomeres may provide insight into MDD pathophysiology. Telomere length may have potential as a biomarker in mitochondrial disease, but further study is needed.},
}

@article {pmid41677621,
year = {2026},
author = {Burla, R and La Torre, M and Maccaroni, K and Tacconi, S and Dini, L and Saggio, I},
title = {Reduced CHMP7 Expression Compromises Telomere Integrity in Mammalian Cells.},
journal = {Cells},
volume = {15},
number = {3},
pages = {},
doi = {10.3390/cells15030256},
pmid = {41677621},
issn = {2073-4409},
support = {Award Number: Pro, Project code CN_00000033, Concession Decree No. 1034 of 17 June 2022//support of NBFC to IS, National Recovery and Resilience Plan (NRRP), Mission 4 Component 2 Investment 1.4-Call for tender No. 3138 of 16 December 2021, rectified by Decree n. 3175 of 18 December 2021 of Italian Ministry of University and Research funded b/ ; AIRC IG-24614 to IS//AIRC to IS/ ; Anna Tramontano call 2020//Istituto Pasteur Fondazione Cenci Bolognetti Anna Tramontano call 2020 to IS/ ; RP1201729E377B2D, RP11916B7F20A9E3, RP12218167BDB0A9//MUR-Sapienza to IS/ ; RM12117A5D970AB9 and GA122181AFEB4283//Sapienza to IS as co-PI/ ; AR22117A575BCFA5//Sapienza/ ; Programma di ricerca e formazione//Italian ministry of health 2022 Programma di ricerca e formazione to IS/ ; HLCA22Feb-0029//Singapore ministry of health to IS as co-PI/ ; },
mesh = {*Telomere/metabolism/genetics ; Humans ; *Endosomal Sorting Complexes Required for Transport/metabolism/genetics ; Nuclear Envelope/metabolism ; Animals ; Heterochromatin/metabolism ; Nuclear Proteins/metabolism ; DNA Damage ; DNA-Binding Proteins/metabolism ; HeLa Cells ; },
abstract = {During open mitosis, reassembly of the nuclear envelope requires the coordinated recruitment of the ESCRT machinery, initiated by the chromatin-associated factor BAF1 and the nuclear-envelope-associated factor LEM2. Because telomeres are enriched at the reforming envelope, we investigated whether ESCRT factors contribute to telomere integrity. Reduction in the pivotal nuclear ESCRT factor CHMP7 caused DNA damage, heterochromatin disorganization, and telomere defects, including sister telomere associations and telomere free ends. Extending this analysis, we found that additional ESCRT components, including TSG101, VPS28, CHMP4B, and the ESCRT-associated factor AKTIP/Ft1, also contribute to telomere integrity, although with different strengths. Genetic interaction analyses suggest that CHMP7 converges in a common pathway with CHMP4B and AKTIP/Ft1, while it functions in parallel routes to TNKS1, a telomere-specific regulator of the shelterin TRF1. More genetic analyses indicated that BAF1 and LEM2 contribute to safeguarding of telomeres during nuclear envelope reassembly. Because defects in nuclear envelope dynamics and chromatin-membrane coupling are hallmarks of disorders associated with nuclear deformation and fragility, including aging and cancer, our findings contribute a new angle into these conditions and suggest potential targets for selectively modulating telomere maintenance pathways.},
}

*Telomere/metabolism/genetics
Humans
*Endosomal Sorting Complexes Required for Transport/metabolism/genetics
Nuclear Envelope/metabolism
Animals
Heterochromatin/metabolism
Nuclear Proteins/metabolism
DNA Damage
DNA-Binding Proteins/metabolism
HeLa Cells

@article {pmid41677031,
year = {2026},
author = {Li, A and Austin, TR and Steffen, BT and Jacobson, I and Xie, J and Pankratz, N and Lane, JA and Fitzpatrick, A and Bis, JC and Arking, DE and Mosley, T and Sedaghat, S and Pankow, JS and Lutsey, PL and Guan, W and Tang, W},
title = {Plasma Proteome Signature for Leukocyte Telomere Length and Its Link to Abdominal Aortic Aneurysm.},
journal = {Journal of cellular and molecular medicine},
volume = {30},
number = {3},
pages = {e71047},
doi = {10.1111/jcmm.71047},
pmid = {41677031},
issn = {1582-4934},
support = {R21AG072530/AG/NIA NIH HHS/United States ; R01HL155209/HL/NHLBI NIH HHS/United States ; },
mesh = {Humans ; *Aortic Aneurysm, Abdominal/blood/genetics/metabolism ; Male ; *Leukocytes/metabolism ; Female ; *Proteome/metabolism ; Middle Aged ; Biomarkers/blood ; Aged ; *Telomere/genetics/metabolism ; Mendelian Randomization Analysis ; Risk Factors ; *Telomere Homeostasis ; Proteomics/methods ; *Blood Proteins ; },
abstract = {Shorter leukocyte telomere length (LTL) is an aging biomarker and risk factor for aging-related diseases, including abdominal aortic aneurysm (AAA). This study aimed to identify plasma proteins causally associated with LTL and investigate their roles in linking LTL to AAA. A proteomics analysis was conducted for LTL and a polygenic risk score (PRS) for LTL using 4955 plasma proteins by SomaScan in self-identified White participants (N = 7587-8055) from the Atherosclerosis Risk in Communities (ARIC) study. Replications were evaluated in self-identified Black participants (N = 1668-2094) from ARIC and White participants (N = 2333-2431) from the Cardiovascular Health Study (CHS). Mendelian randomization (MR) analysis assessed causality between LTL and proteins. Survival and mediation analyses explored protein-mediated associations between LTL and AAA risk. In ARIC White participants, 15 unique proteins were identified for LTL or LTL PRS. Three LTL-associated proteins (MZB1, PLOD3, COL28A1) replicated in ARIC Black participants, and six (TNFRSF17, MZB1, CHL1, GDF15, THPO and PLOD3) in CHS White participants. Three proteins associated with LTL PRS (THPO, GP1Bα, PEAR1) replicated in CHS White participants. MR analysis supported causal associations between LTL and five proteins (KDR, TNFRSF17, GDF15, ST3GAL6, CHL1) with all except GDF15 being novel to LTL. LTL was associated with AAA risk (HR = 0.873, 95% CI: 0.803-0.950), with GDF15 mediating 12.4% of this association (p = 0.028). We identified five proteins causally influenced by LTL and highlighted GDF15 as a mediator linking LTL to AAA risk, offering novel insights into aging biology and AAA pathogenesis.},
}

Humans
*Aortic Aneurysm, Abdominal/blood/genetics/metabolism
Male
*Leukocytes/metabolism
Female
*Proteome/metabolism
Middle Aged
Biomarkers/blood
Aged
*Telomere/genetics/metabolism
Mendelian Randomization Analysis
Risk Factors
*Telomere Homeostasis
Proteomics/methods
*Blood Proteins

@article {pmid41675381,
year = {2025},
author = {Han, P and Zhou, Y and Deng, W},
title = {Modeling telomere shortening process.},
journal = {Quantitative biology (Beijing, China)},
volume = {13},
number = {1},
pages = {e74},
pmid = {41675381},
issn = {2095-4697},
abstract = {Cell senescence has attracted much attention in the long history of human beings, and telomere shortening (TS) is one of the main concerns in the study of cell senescence. To reveal the microscopic mechanism of TS process, we model it based on molecular stochastic process from the perspective of nonequilibrium statistical physics. We associate the TS process with the continuous time random walk and derive the Fokker-Planck equation to describe the length distribution of the TS. We further modify the model describing the TS process, similar to the anomalous tempered diffusion, and derive the Feynman-Kac equation characterizing the functional distribution of the TS process. Finally, we study the statistics related to the critical telomere length l c , including the occupation time and first passage time. These two kinds of statistics help us understand the time scale of cell senescence.},
}

@article {pmid41673035,
year = {2026},
author = {El Idrissi, H and Gkanogiannis, A and Iraqi, D and Khoulassa, S and Fokar, M and Badaoui, B and Moussadek, R and Mentag, R and Khayi, S},
title = {A phased, near-telomere-to-telomere chromosome-scale reference genome of the Moroccan argan tree.},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-026-06615-7},
pmid = {41673035},
issn = {2052-4463},
abstract = {The argan tree (Argania spinosa), endemic to Morocco, holds major ecological and economic value. We generated a high-quality, chromosome-scale, phased reference genome using PacBio HiFi long reads and Hi-C scaffolding. The assembly resolves two haplotypes, each organized into 11 pseudochromosomes (2n = 22). Haplotype-1 spans 621 Mb (scaffold N50 = 50 Mb; GC = 33.79%), and Haplotype-2 spans 615 Mb (scaffold N50 = 51 Mb; GC = 33.77%). BUSCO completeness is 97.8% for Hap1 and 98.1% for Hap2, with Merqury QV values of 75 for both, indicating high consensus accuracy and strong phasing. Telomeric repeats (AAACCCT)n appear at both ends of most chromosomes, and only small terminal gaps remain, so we conservatively classify the assemblies as near-T2T. We annotated 35,183 gene loci producing 39,805 mRNA isoforms and 410 tRNA genes, with 76.46% of loci functionally characterized. Repeats represent 61.65% of the genome, dominated by LTR retrotransposons. All raw data, assemblies, and annotations are publicly accessible, providing a robust genomic foundation for conservation genetics, breeding, and evolutionary studies in A. spinosa.},
}

@article {pmid41670794,
year = {2026},
author = {Chen, X and Huang, Y and Zhao, C and Huang, M},
title = {Association between leukocyte telomere length and neurodegenerative diseases: a prospective cohort in the UK Biobank.},
journal = {Journal of neurology},
volume = {273},
number = {2},
pages = {137},
pmid = {41670794},
issn = {1432-1459},
support = {ZDXK202252//Jiangsu Provincial Medical Key Discipline/ ; K2023014//Jiangsu Provincial Health Commission Key Medical projects/ ; GSWS2022068//Suzhou Gusu Health Talent Plan Talent Research Project/ ; },
mesh = {Humans ; Male ; Female ; *Neurodegenerative Diseases/genetics/epidemiology ; United Kingdom/epidemiology ; *Leukocytes/metabolism ; Aged ; Biological Specimen Banks ; Middle Aged ; Prospective Studies ; *Telomere ; Cohort Studies ; Aged, 80 and over ; Machine Learning ; UK Biobank ; },
abstract = {BACKGROUND: This study aims to investigate the association between leukocyte telomere length (LTL) and the risk of incident NDDs using a large-scale cohort from the UK Biobank.

METHODS: Data from 459,902 subjects were analyzed using Cox proportional hazards models and machine learning (ML) algorithms to assess LTL's association with NDD risk.

RESULTS: Shorter LTL was associated with an increased risk of NDDs, including Alzheimer's disease (HR: 0.52, 95% CI 0.40-0.67, P < 0.001), dementia in AD (HR: 0.53, 95% CI 0.39-0.73, P < 0.001), unspecified dementia (HR: 0.74, 95% CI 0.58-0.95, P < 0.05), degenerative diseases of the nervous system (including other specified degenerative diseases such as circumscribed brain atrophy and senile degeneration of the brain) (HR: 0.62, 95% CI 0.45-0.84, P < 0.01), extrapyramidal and movement disorders (including other specified extrapyramidal and movement disorders such as a range of tremors, chorea, tics, and other abnormal involuntary movements) (HR: 0.63, 95% CI 0.48-0.82, P < 0.01), and mental and behavioral disorders due to use of alcohol (HR: 0.46, 95% CI 0.38-0.55, P < 0.001). Conversely, longer LTL was associated with a 3.71-fold increased risk of multiple sclerosis (MS) (HR: 3.71, 95% CI 1.91-7.18, P < 0.001). ML models confirmed the predictive value of LTL for NDDs.

CONCLUSION: Shorter LTL increased the risk of several NDDs, while longer LTL paradoxically predisposed individuals to MS, especially in younger populations. ML models demonstrated strong potential for predicting NDD risks, enhancing our understanding of the role of telomeres in neurodegeneration.},
}

Humans
Male
Female
*Neurodegenerative Diseases/genetics/epidemiology
United Kingdom/epidemiology
*Leukocytes/metabolism
Aged
Biological Specimen Banks
Middle Aged
Prospective Studies
*Telomere
Cohort Studies
Aged, 80 and over
Machine Learning
UK Biobank

@article {pmid41668119,
year = {2026},
author = {Zhou, N and Li, S and Foss-Skiftesvik, J and Dahlin, AM and Bybjerg-Grauholm, J and Melin, B and de Smith, AJ and Walsh, KM and Wiemels, JL},
title = {Relationship between genetically determined telomere length and childhood glioma risk.},
journal = {Acta neuropathologica communications},
volume = {},
number = {},
pages = {},
doi = {10.1186/s40478-025-02199-2},
pmid = {41668119},
issn = {2051-5960},
support = {R01CA194189/CA/NCI NIH HHS/United States ; T33IR6502//Tobacco-Related Disease Research Program/ ; },
abstract = {While longer genetically predicted leukocyte telomere length (LTL) has been linked to increased glioma risk in adults, this association has not been investigated in pediatric populations. In this study, we applied Mendelian randomization (MR) and polygenic risk score (PRS) analyses to investigate the relationship between LTL and pediatric glioma risk, using 4,069 cases and 8,778 controls from the largest available childhood glioma meta-GWAS. Results suggested longer genetically predicted LTL was significantly associated with increased childhood glioma risk, with OR per 1 standard deviation increase in LTL of 2.12 (95% CI 1.32-3.39, P = .002) in the multi-ancestry group and 2.16 (95% CI 1.16-4.03; P = .015) in the European group. Key SNPs contributing to risk of childhood glioma included rs59294613 (POT1), rs8105767 (ZNF208), and rs7705526 (TERT), which differed from the top variants previously identified in adult glioma using the same genetic instruments. Age-stratified MR revealed a stronger association in children diagnosed after the age of 6 (OR = 1.89; P < .001) vs. ≤ 6 years (OR = 1.04; P = .732; Phet = .006). PRS analysis further supported this age-stratified findings by demonstrating a positive association between LTL PRS and age at glioma diagnosis, particularly within age 0-10. This trend suggests a progressively greater influence of LTL on glioma risk in older children compared to younger children. In conclusion, this study provides the first genetic evidence linking longer genetically predicted LTL to increased pediatric glioma risk. While overall consistent with adult findings, distinct single-SNP associations, and age-dependent effects highlight unique biological mechanisms in children with glioma, warranting further direct investigation into telomere dynamics in early-life gliomagenesis.},
}

@article {pmid41667453,
year = {2026},
author = {Chang, ACY and Pardon, G and Chang, ACH and Wang, C and Termglinchan, V and Kirillova, A and Nicin, L and Birnbaum, F and Laquerrière, A and Bonne, G and Wu, J and Blau, HM},
title = {Telomere shortening in laminopathic dilated cardiomyopathy.},
journal = {NPJ Regenerative medicine},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41536-026-00462-1},
pmid = {41667453},
issn = {2057-3995},
support = {82070248//National Natural Science Foundation of China/ ; 19PJ1407000//Shanghai Pujiang Program/ ; 0900000024//Program for Professor of Special Appointment (Eastern Scholar) at Shanghai Institutions of Higher Learning/ ; 13POST14480004//American Heart Association/ ; 17MERIT33610009//American Heart Association/ ; 17CSA33590101//American Heart Association/ ; 18POST34080160//American Heart Association, United States/ ; #P2SKP2_164954//Swiss National Science Foundation (SNSF) Early Postdoc Mobility Fellowship/ ; R01 AG044815/NH/NIH HHS/United States ; },
abstract = {Laminopathies are a group of rare disease due to mutations in the LMNA gene, which is crucial for nuclear integrity and cellular rigidity. Depending on the mutation, the disease manifests in striated muscles, adipose tissues, nerves, and the heart. Although many laminopathic patients exhibit accelerated aging syndromes, the connection as to why loss of LMNA drives aging remains unknown. Herein, we present evidence that cardiomyocytes from laminopathic heart sections exhibit shortened telomeres. Patient derived hiPSC-CMs we observed LMNA mutation results in myocardial enlargement and altered contractility in cardiomyocytes. Further, laminopathic murine cardiomyocytes recapitulates telomere attrition phenotype.},
}

@article {pmid41666530,
year = {2026},
author = {Hernández-Silva, D and Matabuena, M and Guío-Carrión, A and Aguilera, J and Martín, A and Megias, D and Mínguez, D and Demessant-Flavigny, AL and Castillejo, I and Bernerd, F and Prieto, L and Blasco, MA},
title = {Photoprotection from UV light-induced telomere shortening and DNA damage by a broad-spectrum sunscreen.},
journal = {Journal of photochemistry and photobiology. B, Biology},
volume = {276},
number = {},
pages = {113375},
doi = {10.1016/j.jphotobiol.2026.113375},
pmid = {41666530},
issn = {1873-2682},
abstract = {BACKGROUND: Ultraviolet (UV) radiation contributes to photoaging and skin cancer by causing DNA damage and generating reactive oxygen species (ROS). It also induces telomere shortening, a key factor in cellular aging. However, no studies have investigated whether sunscreen can prevent short-term telomere shortening caused by UV exposure to human skin.

OBJECTIVES: We have examined whether the use of a broad-spectrum sunscreen product can protect at the telomere level from the harmful effects of UV light.

METHODS: Human keratinocytes and a 3D skin model were exposed to 10 J/cm[2] of solar-simulated UV radiation under three conditions: non-exposed, exposed, and exposed with broad-spectrum sunscreen. DNA damage, assessed by γH2AX levels, was measured at 30 min and 24 h post-irradiation. Telomere length was evaluated by high-throughput quantitative fluorescence in situ hybridization (HT Q-FISH) at 24 h post-irradiation. Histological analysis of 3D skin samples was performed using hematoxylin and eosin (H&E) staining to assess tissue integrity.

RESULTS: A decrease in cell number, increased DNA damage, and telomere shortening, accompanied by a higher proportion of critically short telomeres, were observed in UV-exposed keratinocytes and reconstructed human skin following exposure to 10 J/cm[2] of solar-simulated UV radiation. The 3D skin architecture was also compromised, showing loss of keratinocytes spatial organization, evidence of epidermal cell death, and significant dermal thinning. However, cells and 3D skin samples protected with a broad-spectrum sunscreen remained comparable to non-exposed controls, showing no detectable structural or molecular alterations.

CONCLUSIONS: These findings provide initial evidence that a broad-spectrum sunscreen product can mitigate UV-induced telomere shortening and DNA double-strand damage (DSBs), thereby preventing photodamage associated with solar exposure.},
}

@article {pmid41665749,
year = {2026},
author = {Kurashova, NA and Dashiev, BG and Kolesnikov, SI and Kolesnikova, LI},
title = {Relative Telomere Length in Leukocytes as a Potential Biomarker of Male Idiopathic Infertility.},
journal = {Bulletin of experimental biology and medicine},
volume = {},
number = {},
pages = {},
pmid = {41665749},
issn = {1573-8221},
abstract = {The relative length of telomeric repeats in peripheral blood leukocytes was assessed in men with idiopathic infertility. A retrospective analysis was conducted on data from men in infertile couples, and a subgroup diagnosed with idiopathic infertility was identified. A control group of apparently healthy fertile men with proven reproductive function was also established. Genomic DNA was extracted from whole venous blood samples. Men with idiopathic infertility exhibited a significantly shorter relative telomere length reduced by approximately 40% in comparison with fertile controls (p < 0.05). This telomere shortening suggests ongoing genomic instability, likely driven by oxidative stress-mediated DNA damage. Although telomere length is emerging as a potential biomarker of male reproductive health, current evidence regarding its role in idiopathic infertility remains limited. The findings presented here highlight the need for further research to elucidate the molecular mechanisms governing telomere dynamics in the context of male infertility.},
}

@article {pmid41664073,
year = {2026},
author = {Yu, X and Zhang, Y and Lu, X and Ma, K and Sun, Y and Chen, X},
title = {Effects of intergenerational parent-child separation on early eruption of permanent molar and telomere length: a cross-sectional study among Chinese children aged 3-6 years.},
journal = {BMC oral health},
volume = {},
number = {},
pages = {},
doi = {10.1186/s12903-026-07865-y},
pmid = {41664073},
issn = {1472-6831},
support = {82173537//National Natural Science Foundation of China/ ; },
}

@article {pmid41663282,
year = {2026},
author = {Cooper, JP and Denchi, EL and Lingner, J and Pickett, HA},
title = {Telomeres and Telomerase.},
journal = {Cold Spring Harbor perspectives in biology},
volume = {},
number = {},
pages = {},
doi = {10.1101/cshperspect.a041972},
pmid = {41663282},
issn = {1943-0264},
abstract = {Telomeres represent a molecular nexus where genome stability, aging, disease susceptibility, and regenerative potential converge. Advances in understanding how telomeres are replicated, protected, and repaired now inform fundamental questions about human lifespan, tissue renewal, the molecular origins of age-related decline, and cancer evolution. This volume presents an integrated collection of perspectives spanning telomere architecture, replication dynamics, telomere-driven genome instability, and telomere maintenance by telomerase and Alternative Lengthening of Telomeres (ALT), while also charting new therapeutic directions grounded in telomere biology. Drawing on molecular, structural, organismal, and clinical research, this collection showcases a field in rapid motion, reshaping our view of regeneration, aging, and disease.},
}

@article {pmid41661273,
year = {2026},
author = {Jain, M and Madeka, S and Khattar, E},
title = {Metformin exhibits gender specific impact on telomere dynamics by enhancing RAP1 expression in type-2 diabetes mellitus.},
journal = {Acta diabetologica},
volume = {},
number = {},
pages = {},
pmid = {41661273},
issn = {1432-5233},
support = {IO403061//SVKM's NMIMS Deemed to be University/ ; },
abstract = {Telomere length serves as a critical biomarker of ageing, and diabetes is associated with shorter telomeres. This study aims to investigate the association and underlying molecular mechanism between telomere attrition rate in healthy individuals and patients with type 2 diabetes who consume the anti-diabetic drug metformin. Leukocyte telomere length was measured using the telomere restriction fragment assay in 111 healthy individuals and in 73 individuals with type 2 diabetes who were consuming metformin. Telomere length-regulating mRNA and protein expression studies were performed. The BJ fibroblast cell line was treated with different concentrations of metformin, and telomere length analysis, gene expression and chromatin immunoprecipitation (ChIP) were performed. Compared to healthy volunteers, telomere attrition was markedly reduced in diabetic patients who were on metformin. Diabetic females, in particular, showed an increase in telomere length, while males showed a reduction in the telomere attrition rate. In the BJ fibroblasts, metformin slowed telomere attrition in a dose-dependent manner. Molecular studies revealed that metformin treatment resulted in increased expression of telomeric protein RAP1 via enhanced PGC1α-dependent Foxo3a recruitment to the RAP1 promoter. Metformin is associated with decreased telomere attrition and increased telomeric protein RAP1 expression in both diabetic patients and in the fibroblast model. The effect is particularly significant in females. To our knowledge, this is the first study to identify a PGC-1α-FOXO3a-RAP1 signaling axis linking metformin exposure to telomere protection in human diabetic cohorts and to mechanistically validate this pathway using a fibroblast model.},
}

@article {pmid41655979,
year = {2026},
author = {Shellard, JPG and Carr, E and Tam-McMillan, G and Mao, EW and Mujuru, H and Banda Mabuda, H and Chisenga, M and Bandason, T and Dzavakwa, NV and Kasonka, L and Simms, V and Gregson, CL and Ferrand, RA and Rowland-Jones, SL and Hsieh, AYY},
title = {Unsuppressed viraemia and lower CD4 count associated with faster telomere attrition in African children with perinatal HIV on long-term antiretroviral therapy.},
journal = {The Journal of infectious diseases},
volume = {},
number = {},
pages = {},
doi = {10.1093/infdis/jiag060},
pmid = {41655979},
issn = {1537-6613},
abstract = {BACKGROUND: HIV leads to reduced telomere length (TL), a biomarker of immune ageing. We investigated relationships between HIV viral load (VL) and CD4 count with TL and its rate of attrition in children with HIV (CWH) from Zambia and Zimbabwe.

METHODS: Buffy coat was obtained at baseline and 48 weeks from children aged 11-19 years with perinatally-acquired HIV taking combination antiretroviral therapy (cART) for >6 months recruited into the VITALITY trial [Trial registration no: PACTR202009897660297]. Relative TL was measured using monochrome multiplex qPCR, standardising units for analysis. Cross-sectional analyses used multivariable linear regression adjusting for age, sex and study site; longitudinal analysis additionally adjusted for baseline TL.

RESULTS: Among participants at baseline (N=842, mean±SD age 15.5±2.6 years, 53.2% female), 678(80.5%) had HIV VL<60 copies/mL, 66(7.8%) had 60-1000 copies/mL and 98(11.6%) had >1000 copies/mL. The CD4 count was 584±243 cells/μL. Compared to participants with VL<60 copies/mL, those with VL>1000 copies/mL had shorter TL (β[95%CI]=-0.239[-0.451, -0.026], P=0.028) whereas those with 60-1000 copies/mL did not (P=0.836). Lower CD4 cell count was associated with shorter TL (β[95%CI]=-0.038[-0.009, -0.066] per 100 CD4 cells/μL, P=0.009). In longitudinal analysis (N=783) after 336±6 days, those with HIV VL>1000 copies/mL at both timepoints had an accelerated telomere attrition rate (β[95%CI]=-0.276[-0.546, -0.005], P=0.046) compared with participants with VL<1000 copies/mL. Lower baseline CD4 count was associated with faster telomere attrition rate (β[95%CI]=-0.033[-0.008, -0.057], P=0.009).

CONCLUSIONS: HIV VL>1000 copies/mL among CWH on cART in Africa is associated with a degradation of immune age within one year, which may increase risk of co-morbidities later in life.},
}

@article {pmid41654254,
year = {2026},
author = {Kirchner, R and Pereira, M and Peterson, M and Berres, ME and Churpek, JE},
title = {Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders.},
journal = {The Journal of molecular diagnostics : JMD},
volume = {},
number = {},
pages = {},
doi = {10.1016/j.jmoldx.2026.01.005},
pmid = {41654254},
issn = {1943-7811},
abstract = {Acquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders (TBDs) and carry diagnostic and prognostic significance. Detection of these variants is challenging due to low variant allele frequencies (VAFs) and high GC content. We tested the sensitivity of long-read amplicon sequencing with deepSNV analysis, referred to as LR-deep AmpSeq, for TERTp variant detection. Among 47 patients with TBD features, we achieved an average depth of coverage of 7,943x and detected seven TERTp variants in six individuals (13%) with VAFs ranging from 0.006-0.33. Our results demonstrate that LR-deep AmpSeq is a sensitive, cost-effective method to detect low VAF TERTp variants.},
}

@article {pmid41650046,
year = {2026},
author = {Shen, J and Wang, L and Liu, J and Fan, Z and Li, G},
title = {The association of serum levels of vitamin D with leucocyte telomere length, as a marker of biological aging: A meta-analysis.},
journal = {Medicine},
volume = {105},
number = {6},
pages = {e44487},
doi = {10.1097/MD.0000000000044487},
pmid = {41650046},
issn = {1536-5964},
mesh = {Humans ; *Vitamin D/blood/analogs & derivatives ; *Leukocytes/metabolism ; *Aging/blood/genetics ; Vitamin D Deficiency/blood ; Biomarkers/blood ; Female ; *Telomere ; Male ; Adult ; },
abstract = {BACKGROUND: Short telomere length (TL) has been associated with chronic diseases and reduced lifespan. Vitamin D may help preserve telomeres through its anti-inflammatory effects; however, the relationship between serum 25-hydroxyvitamin D (25(OH)D) levels and TL remains inconclusive. This meta-analysis was conducted to evaluate the association between circulating 25(OH)D and leukocyte TL (LTL).

METHODS: A comprehensive literature search was performed across PubMed, Scopus, Google Scholar, ClinicalTrials.gov, and Cochrane Library to identify relevant studies published up to February 2025. Standardized β coefficients with 95% confidence intervals were applied as the effect size metric to evaluate the associations using a random effect model.

RESULTS: A total of 21 studies comprising 185,191 participants were analyzed. The overall results demonstrated a positive association between serum 25(OH)D levels and LTL (β = 0.04, 95% CI = 0.02-0.06), with remarkable heterogeneity across studies (I²= 89.1%, P ≤.001). This association was supported in adults (β = 0.04, 95% CI = 0.03-0.06), women (β = 0.05, 95% CI = 0.01-0.08), individuals with vitamin D deficiency (β = 0.22, 95% CI = 0.01-0.43), and studies that adjusted for covariates (β = 0.05, 95% CI = 0.01-0.08). No significant associations were found in men, participants with serum 25(OH)D levels ≥ 30 ng/mL, children, or studies without covariate adjustments. The relationships were not influenced by the method of TL assessment, body mass index, smoking status, and sample size.

CONCLUSION: Serum 25(OH)D levels showed a positive correlation with LTL in women, adults, and individuals with vitamin D deficiency.},
}

Humans
*Vitamin D/blood/analogs & derivatives
*Leukocytes/metabolism
*Aging/blood/genetics
Vitamin D Deficiency/blood
Biomarkers/blood
Female
*Telomere
Male
Adult

@article {pmid41649924,
year = {2026},
author = {Amin, AB and Ibarra-Meneses, AV and Gagnon, S and Merhi, G and Olivier, M and Ndao, M and Blanchette, M and Fernandez-Prada, C and Langlais, D},
title = {Telomere-to-telomere assembly detects genomic diversity in Canadian strains of Borrelia burgdorferi.},
journal = {Cell reports},
volume = {45},
number = {2},
pages = {116935},
doi = {10.1016/j.celrep.2026.116935},
pmid = {41649924},
issn = {2211-1247},
abstract = {Borrelia burgdorferi, the bacteria causing Lyme disease, has a complex genome comprising a linear chromosome and multiple linear and circular plasmids. The atypical hairpin telomeres and the highly paralogous plasmids complicate genome assembly. We develop a genome assembly pipeline using both long and short reads to overcome these challenges. Using long reads, we assemble the hairpin telomeres of the linear replicons, an lp28-1a plasmid subtype, and circular plasmids of nine B. burgdorferi strains from five regions across Northwest Ontario and Manitoba, Canada. Although similar across the core conserved genomic regions, all strains carry a ∼2-10 kb right telomeric end identical to lp28-1, leading to variability in telomere length and gene content. Additionally, we observe diversity at the linear chromosome hairpin telomeric sequences, ospC types, and plasmid profiles, highlighting the genomic diversity among the geographically proximate strains and suggesting such variations as possible mechanisms of rapid evolution.},
}

@article {pmid41647456,
year = {2026},
author = {Kiani, N and Keshavarz, S and Hosseini, SA and Banai, J},
title = {The effect of training and Tribulus terrestris extract on the antioxidant system and telomere functional markers in the liver tissue of rats exposed to stanozolol.},
journal = {Avicenna journal of phytomedicine},
volume = {16},
number = {1},
pages = {184-194},
pmid = {41647456},
issn = {2228-7930},
abstract = {OBJECTIVE: The present study aimed to assess the effect of training along with administration of Tribulus terrestris (T) on the antioxidant system and telomere functional markers in the liver tissue of rats exposed to stanozolol.

MATERIALS AND METHODS: Forty- nine male rats, with average age and weight of 8-10 weeks and 180-220 g respectively, were randomly divided into 7 groups of seven rats: 1) Sh: Sham, 2) S: stanozolol, 3) S+T50: stanozolol+ 50 mg/kg T. terrestris, 4) S+T100: stanozolol+ 100 mg/kg T. terrestris, 5) S+RT: stanozolol + resistance training, 6) S+RT+T50: stanozolol + resistance training + 50 mg/kg T. terrestris, and 7) S+RT+T100: stanozolol + resistance training + 100 mg/kg T. terrestris. Rats in the S groups received 5 mg/kg stanozolol intraperitoneally (25 mg/kg/wk). Groups 5 (R+T), 6 (S+RT+T50), and 7 (S+RT+T100) performed resistance trainings three sessions per week with an intensity of 30-100 percent of body weight for eight weeks. Also, groups 3 (S+T50), 4 (S+T100), 6 (S+RT+T50) and 7 (S+RT+T100) received daily ethanolic extract of T with doses of 50 and 100 mg/kg intraperitoneally.

RESULTS: In the S+RT, S+T50, S+T100, S+RT+T50, and S+RT+T100 groups, malondialdehyde (MDA) levels were significantly lower and gene expression of phosphoinositide 3-kinases (PI3K), protein kinase B (Akt), and telomerase reverse transcriptase (TERT) levels were higher than the S group. Also, phosphatase and tensin homolog (PTEN) and TERT gene expression levels in the S+T100 group were significantly higher than the S+T50 group.

CONCLUSION: Training and T have a positive effect on the transcription pathway of antioxidants and telomere protection.},
}

@article {pmid41643055,
year = {2026},
author = {Xu, D and Zhao, X and Shang, L and Tian, S and Li, Y and Wen, H and Xu, Q and Li, D and Pan, W},
title = {Time-Efficient and Informatic-Skill-Light Gap-Filling for Telomere-to-Telomere Genome Assembly.},
journal = {Advanced science (Weinheim, Baden-Wurttemberg, Germany)},
volume = {},
number = {},
pages = {e18319},
doi = {10.1002/advs.202518319},
pmid = {41643055},
issn = {2198-3844},
support = {2025YFC3410300//National Key Research and Development Program of China/ ; 32470678//National Natural Science Foundation of China/ ; CAAS-ZDRW202503//Agricultural Science and Technology Innovation Program/ ; Y2025QC36//Youth Innovation Program of the Chinese Academy of Agricultural Sciences/ ; CAAS-CSIAF-202301//Innovation Program of Chinese Academy of Agricultural Sciences/ ; SKLTCBZRJJ202502//Project of State Key Laboratory of Tropical Crop Breeding/ ; //Science and Technology Project of the Ministry of Agriculture and Rural Affairs, P.R. China/ ; 202303021211069//Basic Research Programs of Shanxi Province/ ; },
abstract = {Despite remarkable advances in sequencing technologies and automated genome assembly algorithms, manual gap-filling remains indispensable for achieving telomere-to-telomere (T2T) genome assemblies, a process that can take weeks or even months. Additionally, these tasks require advanced bioinformatics expertise, thereby excluding many biologists from direct participation in T2T genome projects. This severely restricts the ability to construct T2T genomes for larger populations and a wider range of species. To overcome these challenges, we developed GapSuite, an integrated auxiliary software toolbox that includes two complementary tools, Gap-Aid and Gap-Graph, which facilitate gap-filling through sequence-extension-based and assembly-graph-based strategies, respectively. The two tools empower users with limited computational expertise to efficiently perform gap closure on personal computers with just mouse clicks, resulting in a fully assembled genome. GapSuite incorporates several technical innovations to achieve key functions and improve both time and space efficiency. Their effectiveness was validated using Arabidopsis thaliana, rice and human genomes as well as simulated diploid and polyploid genomes. As case studies, we used the tools to construct, to the best of our knowledge, the first T2T genome of rice 9311, a model variety of indica rice, and to fill part of the remaining gaps in a recently published gapless poplar genome.},
}

@article {pmid41642722,
year = {2026},
author = {},
title = {RETRACTION: Arsenic Exposure Through Drinking Water Leads to Senescence and Alteration of Telomere Length in Humans: A Case-Control Study in West Bengal, India.},
journal = {Molecular carcinogenesis},
volume = {},
number = {},
pages = {},
doi = {10.1002/mc.70091},
pmid = {41642722},
issn = {1098-2744},
abstract = {D. Chatterjee, P. Bhattacharjee, T. J. Sau, J. K. Das, N. Sarma, A. K. Bandyopadhyay, S. S. Roy, and A. K. Giri, "Arsenic Exposure Through Drinking Water Leads to Senescence and Alteration of Telomere Length in Humans: A Case-Control Study in West Bengal, India," Molecular Carcinogenesis 54, no. 9 (2015): 800-809, https://doi.org/10.1002/mc.22150. The above article, published online on 24 March 2014 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by Wiley Periodicals LLC. The retraction has been agreed upon following concerns raised by a third-party regarding duplication between Figures 1a and 1b. Further investigation revealed multiple instances of similar background patterns in the western blots shown in Figures 1d and 4b. The authors provided an alternative image to correct Figure 1b; however evidence of duplication was also identified in this replacement. Given the nature of the concerns, the Publisher considers the results and conclusions to be unreliable. The authors disagree with the retraction.},
}

@article {pmid41639459,
year = {2026},
author = {Cheng, H and Qu, H and McKenzie, S and Lawrence, KR and Windsor, R and Vella, M and Park, PJ and Li, H},
title = {Efficient near-telomere-to-telomere assembly of nanopore simplex reads.},
journal = {Nature},
volume = {},
number = {},
pages = {},
pmid = {41639459},
issn = {1476-4687},
abstract = {Telomere-to-telomere (T2T) assembly is the ultimate goal for de novo genome assembly. Existing algorithms[1,2] capable of near-T2T assembly all require Oxford Nanopore Technologies (ONT) ultra-long reads, which are costly and experimentally challenging to obtain and are thus often unavailable for samples without established cell lines[3]. Here we introduce hifiasm (ONT), an algorithm that can produce near-T2T assemblies from standard ONT simplex reads, eliminating the need for ultra-long sequencing. Compared with existing methods, hifiasm (ONT) reduces computational demands by an order of magnitude and reconstructs more chromosomes from telomere to telomere on the same datasets. This advance substantially broadens the feasibility of T2T assembly for applications previously limited by the high cost and experimental requirement of ultra-long reads.},
}

@article {pmid41639094,
year = {2026},
author = {Zhang, X and Hu, C and Chen, J and Yuan, M and Yang, Y and Li, T and Shi, Q},
title = {A telomere-to-telomere gap-free genome assembly of the protandrous maroon clownfish (Premnas biaculeatus).},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-025-06538-9},
pmid = {41639094},
issn = {2052-4463},
abstract = {As a protandrous hermaphrodite with natural male-to-female sex change, maroon clownfish (Premnas biaculeatus) serves as an ideal model organism for investigating sequential hermaphroditism. However, genomic resources for this interesting species remain scarce, thereby limiting in-depth research on its unique biological traits. In this study, we generated the first telomere-to-telomere (T2T) gap-free genome assembly of maroon clownfish by integrating multi-platform sequencing data, including MGI short reads, PacBio HiFi long reads, ONT ultra-long reads, and Hi-C sequencing data. The final haplotypic genome spans 884.39 Mb, with all sequences successfully anchored onto 24 chromosomes. This assembly is highly contiguous, with a contig N50 of 37.98 Mb. Comprehensive genomic characterization revealed the precise localization of telomeric repeats and centromeric region within each chromosome. Independent quality assessments, such as QV of 71.01, CRAQ score of 98.98%, and BUSCO completeness of 99.98%, confirmed good assembly accuracy. Additionally, alignment of ONT ultra-long and PacBio HiFi reads to the assembly yielded a high mapping rate exceeding 99%, further validating a good assembly integrity. Repetitive elements constituted 33.51% (296.37 Mb) of the assembled genome, and a total of 24,556 protein-coding genes were annotated. This high-quality T2T genome assembly will not only provide a valuable genetic resource to advance related research in comparative genomics, population genetics, molecular breeding, and functional genomics of maroon clownfish, but also lay a solid foundation for resolving molecular mechanisms underlying its protandrous reproductive strategy.},
}

@article {pmid41637390,
year = {2026},
author = {Deimler, N and Ho, DV and Paul, N and Gill, Z and Baumann, P},
title = {TARPON-A Telomere Analysis and Research Pipeline Optimized for Nanopore.},
journal = {PLoS computational biology},
volume = {22},
number = {2},
pages = {e1013915},
doi = {10.1371/journal.pcbi.1013915},
pmid = {41637390},
issn = {1553-7358},
mesh = {*Telomere/genetics ; Humans ; *Nanopores ; *High-Throughput Nucleotide Sequencing/methods ; Computational Biology/methods ; *Sequence Analysis, DNA/methods ; *Software ; *Nanopore Sequencing/methods ; Animals ; },
abstract = {Long-read sequencing has transformed many areas of biology and holds significant promise for telomere research by enabling analysis of nucleotide-level resolution chromosome arm-specific telomere length in both model organisms and humans. However, the adoption of new technologies, particularly in clinical or diagnostic contexts, requires careful validation to recognize potential technical and computational limitations. We present TARPON (Telomere Analysis and Research Pipeline Optimized for Nanopore), a best-practices Nextflow pipeline designed for the analysis of telomeres sequenced on the Oxford Nanopore Technologies (ONT) platform. TARPON can be executed via the command line or integrated into ONT's EPI2ME agent, providing a user-friendly graphical interface for those without computational training. Nextflow's container-based architecture eliminates dependency conflicts, thereby streamlining deployment across platforms. TARPON isolates telomeric repeat-containing reads, assigns strand specificity, and identifies enrichment probes that can be used both for demultiplexing and for confirming capture-based library preparation. To ensure that the analysis is restricted to full-length telomeres, reads lacking a capture probe or non-telomeric sequence on the opposite end are excluded. A sliding-window approach defines the subtelomere-to-telomere boundary, followed by quality filtering to remove low-quality or subtelomeric reads that passed earlier steps. The pipeline generates customizable statistics, text-based summaries, and publication-ready visualizations (HTML, PNG, PDF). While default settings are optimized for diagnostic workflows, all parameters are easily adjustable via the GUI or command line to support diverse applications. These include telomere analyses in variant-rich samples (e.g., ALT-positive tumors) and organisms with non-canonical telomeric repeats such as some insects (GTTAG) and certain plants (GGTTTAG). TARPON is the first complete and experimentally validated pipeline for Nanopore-based telomere analysis requiring no data pre-processing or prior bioinformatics expertise, while offering flexibility for advanced users.},
}

*Telomere/genetics
Humans
*Nanopores
*High-Throughput Nucleotide Sequencing/methods
Computational Biology/methods
*Sequence Analysis, DNA/methods
*Software
*Nanopore Sequencing/methods
Animals

@article {pmid41637030,
year = {2026},
author = {Li, S and De Vivo, I and Davinelli, S and Van Denburgh, M and Sorrenti, V and Scapagnini, G and Howard D Sesso, and Cassidy, A},
title = {Flavonoid intake and telomere length attrition among middle-aged women: a cross-sectional analysis of the Nurses' Health Study.},
journal = {GeroScience},
volume = {},
number = {},
pages = {},
pmid = {41637030},
issn = {2509-2723},
support = {UM1 CA186107/NH/NIH HHS/United States ; P01 CA87969/NH/NIH HHS/United States ; R01 CA49449/NH/NIH HHS/United States ; },
abstract = {Although mechanistic studies support a beneficial effect of several dietary flavonoids on telomere length (TL), to our knowledge no studies have examined associations between habitual flavonoid intakes and TL in population-based studies. We examined the associations between habitual intake of major flavonoid subclasses (flavonols, flavones, flavanones, flavan-3-ols and their polymers, and anthocyanins) and TL in a cross-sectional analysis of 4,944 disease-free females from the Nurses' Health Study (NHS). Flavonoid intakes were collected using food frequency questionnaire data, and TL was measured in peripheral blood leukocytes using quantitative real-time polymerase chain reaction. Multivariable-adjusted least squares mean leukocyte TL (z scores and corresponding standard error [SE]) for total and all flavonoid subclasses were calculated using generalized linear models. Although no individual flavonoid subclass was significantly associated with TL in the overall population, when we restricted analyses to younger and middle-aged participants (aged < 55 y), a higher anthocyanin intake associated with longer TL (least squares means ± SE: 0.06 ± 0.06 for the highest versus 0.24 ± 0.07 for the lowest quintile; P-trend = 0.042), corresponding to 6.6 (95% CI, 1.7-14.5) years of aging. In food-based analyses, participants aged < 55 y who consumed more berries had longer TL (Mean TL: 0.10 ± 0.04 for never/rarely; 0.21 ± 0.04 for ≤ 1 serving/week; 0.44 ± 0.26 for ≥ 2 servings/week; P = 0.033 for trend). Similarly, a higher anthocyanin intake was associated with longer TL among pre-menopausal females (0.46 ± 0.11 for the highest versus 0.02 ± 0.08 for the lowest quintile; P-trend = 0.001). Overall, habitual flavonoid intake was not associated with TL attrition in this cross-sectional analysis. However, in females aged < 55 y a higher anthocyanin intake was associated with longer TL, which raises the possibility that anthocyanin-rich foods may promote healthy aging and warrants further investigation with respect to age.},
}

@article {pmid41635782,
year = {2026},
author = {Das, U and Behl, A and Gmeiner, WH},
title = {The fluoropyrimidine polymer CF10 synergizes with 5-ethynyl-2'-deoxyuridine by promoting telomere attrition and mitotic catastrophe.},
journal = {NAR molecular medicine},
volume = {3},
number = {1},
pages = {ugag005},
pmid = {41635782},
issn = {2976-856X},
abstract = {Fluoropyrimidine (FP) drugs, including 5-fluorouracil (5FU), are widely used to treat colorectal cancer (CRC) and target de novo thymidine biosynthesis, resulting in DNA damage and cell death. 5-ethynyl-2'-deoxyuridine (EdU) is a thymidine analog that also causes DNA damage. We investigated synergy between FPs and EdU potentially due to increased EdU incorporation into DNA under thymine-less conditions. Using the highest single agent model, strong synergy was observed between a 2nd-generation FP polymer, CF10, and EdU over a wide range of concentrations. In contrast, only additivity was observed for EdU + 5FU. CRC cells treated with synergistic EdU + CF10 combinations showed increased EdU incorporation into DNA, increased double-strand breaks (DSBs), and S-G2/M cell-cycle arrest. Phosphorylated histone H3 (pH3), a marker of highly condensed chromatin associated with mitosis, was detected in S- and G2/M-phase cells. Telomere staining was significantly reduced in CRC cells treated with EdU + CF10 combinations, and mitotic cells from these treatments showed mono- and multi-polar mitotic structures consistent with mitotic catastrophe. Our results are consistent with CF10 enhancing EdU incorporation into genomic DNA, causing DSBs but not extending telomeres, leading to telomere attrition and inducing mitotic catastrophe in CRC cells. This unique synergistic mechanism could lead to use of EdU + CF10 as a more effective CRC treatment.},
}

@article {pmid41635534,
year = {2025},
author = {Xing, B and Yu, J and Liu, Y and Gao, Q and Chen, X and He, S and Ping, F and Xu, L and Li, W and Zhang, H and Li, Y},
title = {Correction: Remnant cholesterol shows inverse and nonlinear associations with leukocyte telomere length and serum α-Klotho, mediated by inflammation and oxidative stress.},
journal = {Frontiers in endocrinology},
volume = {16},
number = {},
pages = {1748130},
doi = {10.3389/fendo.2025.1748130},
pmid = {41635534},
issn = {1664-2392},
abstract = {[This corrects the article DOI: 10.3389/fendo.2025.1700349.].},
}

@article {pmid41634861,
year = {2026},
author = {Xiao, PX and Tan, L and Dong, J and Huang, J and Huang, Y and He, JB and Su, H and Song, B and Jiao, WB},
title = {Haplotype-resolved and near telomere-to-telomere assembly of the autotetraploid potato genome.},
journal = {Genome biology},
volume = {},
number = {},
pages = {},
doi = {10.1186/s13059-026-03980-9},
pmid = {41634861},
issn = {1474-760X},
support = {32270685//National Natural Science Foundation of China/ ; },
abstract = {BACKGROUND: Potato (Solanum tuberosum) breeding is severely hindered by its highly heterozygous autotetraploid genome, where complex allelic interactions impede precise trait selection. Reconstructing complete haplotype-resolved assemblies is crucial for genome-assisted breeding. However, current assembly methods for autopolyploids often generate fragmented sequences, haplotype-switch errors, and gaps in complex regions such as centromeres.

RESULTS: To address these challenges, we develop PHap, a haplotype assembly pipeline tailored for autopolyploids, using only standard sequencing data, including long-reads and Hi-C. Applying PHap to the autotetraploid potato cultivar HuaShu4, we generate a haplotype-resolved, near telomere-to-telomere assembly of 3.12 Gb with an N50 of 32.7 Mb and 99.7% haplotype accuracy. Comparisons with alternative methods and existing assemblies highlight PHap's advantages in assembly quality and cost-effectiveness. Integration of transcriptomic and epigenomic data demonstrates that the genomic and methylation divergence across haplotypes drives substantial allelic expression differentiation. Time-course RNA-seq further reveals, for the first time, that 55% of genes exhibit divergent allelic expression, with dynamic shifts in dominant or suppressed alleles during tuber development. Additionally, our assembly resolves high-resolution haplotype-specific structures in centromeres and subtelomeres, as well as haplotype divergence of structural rearrangements. It also shows neocentromere formation via the expansion of megabase-scale satellite arrays.

CONCLUSIONS: These findings provide insights into the architecture of autopolyploid genomes and establish a foundation for genomics-assisted breeding of polyploid potatoes.},
}

@article {pmid41629836,
year = {2026},
author = {La Grotta, R and Crocco, P and Leonova, A and Cosimo, SC and Morelli, F and Dato, S and Passarino, G and Rose, G},
title = {Leukocyte telomere length and circulating MiRNAs in relation to cardiovascular outcomes in older adults.},
journal = {BMC geriatrics},
volume = {},
number = {},
pages = {},
doi = {10.1186/s12877-026-07042-4},
pmid = {41629836},
issn = {1471-2318},
support = {cod. 20227KNBEJ//Ministero dell'Università e della Ricerca/ ; DM 1557 11.10.2022//Ministero della Salute/ ; },
}

@article {pmid41624889,
year = {2025},
author = {Carlier, FM and Planté-Bordeneuve, T and Froidure, A and Graux, C and van Dievoet, MA and van Moorsel, CHM and Hoffman, TW},
title = {Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.},
journal = {Frontiers in immunology},
volume = {16},
number = {},
pages = {1718107},
pmid = {41624889},
issn = {1664-3224},
mesh = {Humans ; *Organ Transplantation/adverse effects ; *Telomere/genetics ; Transplant Recipients ; *Hematologic Diseases/etiology/diagnosis ; Immunosuppressive Agents/adverse effects ; Telomere Shortening ; },
abstract = {Telomeres are repetitive nucleotide sequences at the ends of chromosomes that preserve genomic integrity. Defects in telomere maintenance mechanisms lead to premature telomere shortening, resulting in cellular senescence, apoptosis, and organ dysfunction, collectively termed telomere biology disorders (TBDs). Short telomere length is associated with an increased risk of end-stage fibrotic disease of the lung and/or liver, which may necessitate lung or liver transplantation. Beyond pulmonary and hepatic involvement, TBDs can also affect cardiac and renal function. Importantly, the bone marrow function is often also compromised, which can significantly influence transplant outcomes. Although evidence remains scarce, particularly in non-lung solid organ transplant recipients, post-transplant immunosuppressive therapy, typically including corticosteroids, calcineurin inhibitors, and cell cycle inhibitors, may exacerbate the underlying hematopoietic fragility in TBD patients. Hematological complications may result from both the intrinsic TBD and the additive myelotoxic effects of immunosuppressive agents (e.g., azathioprine, mycophenolate mofetil) or anti-infectious prophylaxis (e.g., trimethoprim-sulfamethoxazole, valganciclovir). Early recognition of TBDs prior to transplantation is essential. Assessment of telomere length and genetic testing should be considered in at-risk candidates, particularly those with early-onset pulmonary fibrosis, unexplained cytopenia, cryptogenic liver disease, or a family history suggestive of TBD. A multidisciplinary approach involving pulmonology, hepatology, hematology, and transplant specialists is crucial to optimize patient selection, perioperative management, and post-transplant care. This review summarizes current knowledge on hematological complications following solid organ transplantation in TBD patients and describes expert-opinion strategies for the pre-transplant evaluation and post-transplant management of these high-risk individuals.},
}

Humans
*Organ Transplantation/adverse effects
*Telomere/genetics
Transplant Recipients
*Hematologic Diseases/etiology/diagnosis
Immunosuppressive Agents/adverse effects
Telomere Shortening

@article {pmid41623485,
year = {2026},
author = {Zhang, Z and Sun, X and Shi, J and Xu, H and Wang, H and Yang, Z and Guo, J and Yang, Z and Li, C and Zhu, J and Zhang, Y and Zheng, P and Xue, X and Mi, Y},
title = {Optimized primer and model improve precision of X chromosome telomere length determination in the Han population.},
journal = {iScience},
volume = {29},
number = {2},
pages = {114600},
pmid = {41623485},
issn = {2589-0042},
abstract = {The attrition of telomere length is associated with cellular aging and plays a role in multiple age-related disorders. This study analyzed the relationship between telomere length on the X chromosome and age in the Han population (n = 492) using whole-genome sequencing and long-read sequencing data from 32 individuals. We developed three pairs of primers and completed measurements in a cohort of 124 individuals. We then constructed an online prediction tool based on a three-layer feedforward neural network and validated its performance in an independent cohort of 41 individuals. Our results revealed a complex association between X chromosome telomere length and aging. No significant changes were observed in individuals under 30, while a significant negative correlation emerged in the population over 40, suggesting a potential "telomere shortening accelerating point (TSAP)" around this age. This finding challenges the conventional view of linear telomere shortening, and our model provides effective tools for exploring aging mechanisms.},
}

@article {pmid41622248,
year = {2026},
author = {Zhou, P and Huang, X and Tan, W and Gao, F and Bai, Y and Ma, C and Lin, X and Ma, Y and Li, M and Ni, Z and Shi, T and Hayat, F and Shao, J and Gao, Z},
title = {The telomere-to-telomere haplotype genome provides in-depth insights into the molecular mechanisms of the anthocyanin deficiency phenotype in Prunus mume.},
journal = {Molecular horticulture},
volume = {6},
number = {1},
pages = {8},
pmid = {41622248},
issn = {2730-9401},
support = {JBGS [2021] 019//the "JBGS" Project of Seed Industry Revitalization in Jiangsu Province/ ; KYZZ2025006， KJYQ2024029//Fundamental Research Funds for the Central Universities/ ; 2023M731734//China Postdoctoral Science Foundation/ ; 2023ZB729//Jiangsu Excellence Postdoctoral Program/ ; PAPD//the Priority Academic Program Development of Jiangsu Higher Education Institutions/ ; },
abstract = {Prunus mume originated from China and is highly valued for its remarkable combination of ornamental blossoms and high economic value. Previously published P. mume genomes contain unanchored genetic regions and excessive gaps. Here, we report the P. mume f. viridicalyx gap-free telomere-to-telomere (T2T) haplotype genome. The LE_hap1 and LE_hap2 genomes were 229.29 and 228.36 Mb in length, respectively, with an N50 length of the contig between 27.65 and 27.79 Mb and 24,318 and 24,316 protein-coding genes, respectively. The completeness, continuity, and accuracy of the P. mume f. viridicalyx genome was significantly improved over the previous P. mume genomes. The key mutated genes during P. mume f. viridicalyx cultivar domestication were identified by comparative genomic, population evolution, and selective sweep analyses to be significantly enriched in the anthocyanin metabolism process, glutathione metabolism process, and carotenoid biosynthesis. Further analysis revealed that early codon termination of the PmGSTF2 gene, which is the key gene for the characteristic production of P. mume f. viridicalyx, reduced anthocyanin accumulation. We assembled a complete T2T gap-free haplotype P. mume genome, which provides a reference for gene mining and genome evolution of the anthocyanin deficiency phenotype in P. mume.},
}

@article {pmid41620921,
year = {2026},
author = {Guo, S and Chen, C and Guo, Y and Zhou, D and Ruan, J},
title = {Telomere-based Risk Model for Prognosis Prediction in Clear Cell Renal Cell Carcinoma.},
journal = {Current medicinal chemistry},
volume = {},
number = {},
pages = {},
doi = {10.2174/0109298673424522251103073120},
pmid = {41620921},
issn = {1875-533X},
abstract = {INTRODUCTION: Telomeres have become extensively studied in renal cell carcinoma (RCC), and this study aims to identify relevant diagnostic biomarkers in the predominant RCC subtype, clear cell RCC (ccRCC).

MATERIALS AND METHODS: This study retrieved telomere-related genes from the TelNet database and integrated data from The Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO) to calculate telomere enrichment scores using single-sample gene set enrichment analysis (ssGSEA). Weighted gene co-expression network analysis (WGCNA) and differential expression analysis were then applied to identify candidate genes, which were further refined through protein-protein interaction (PPI) network construction and two machine learning methods: least absolute shrinkage and selection operator (LASSO) regression and support vector machine-recursive feature elimination (SVM-RFE). The associations between the identified feature genes and immune cell infiltration were subsequently evaluated using CIBERSORT and ESTIMATE. Furthermore, single-cell analysis was employed to determine the highly expressed genes in different cell clusters. Finally, using a ccRCC cell line, quantitative real-time PCR, wound healing, and Transwell assays were performed to validate the expression and potential biological functions of the selected key genes.

RESULTS: A higher telomere score was observed in ccRCC. The common genes from the DEGs and the gene modules were mainly enriched in cell division- and senescence-related pathways. Moreover, six genes (ASPM, CENPF, CEP55, MELK, BUB1, and EXO1) were identified as feature genes with satisfactory diagnostic efficacy and high expression in ccRCC; they were positively correlated with most immune cells and highly expressed in T cells. Notably, CEP55 knockdown suppressed the migration and invasion of ccRCC cells.

DISCUSSION: Our present study, based on the data from the public databases, unraveled 6 genes with diagnostic efficacy in ccRCC, which may aid the development of a relevant future diagnostic method in ccRCC.

CONCLUSION: This study identified six telomere-related genes with high expression and strong diagnostic value in ccRCC, highlighting their association with immune infiltration and potential as diagnostic and therapeutic targets.},
}

@article {pmid41619133,
year = {2026},
author = {Mendez, KJW and Lee, SK and Dagnall, C and Lai, TP and Katki, H and Spellman, SR and Stewart, V and Aviv, A and Gadalla, SM and Hong, HG},
title = {Quantile regression of the relationship between demographic factors and leukocyte telomere length, measured by Southern blot and qPCR.},
journal = {GeroScience},
volume = {},
number = {},
pages = {},
pmid = {41619133},
issn = {2509-2723},
support = {U01AG066529/NH/NIH HHS/United States ; U24CA076518/NH/NIH HHS/United States ; 75R60222C00011//HRSA/ ; N00014-24-1-2057//Office of Naval Research/ ; N00014-25-1-2146//Office of Naval Research/ ; 75N910D00024/CA/NCI NIH HHS/United States ; },
abstract = {Telomere length (TL) is associated with health outcomes. Southern Blotting (SB) is the gold standard of TL measurements, while qPCR-based TL measurements are the most used because of their high throughput. We compared leukocyte TL (LTL) measurements by SB and qPCR, and their ability to capture LTL associations with demographic factors. This study included 908 healthy donors for hematopoietic cell transplantation who had blood samples and data available at CIBMTR®. We used quantile regression (QR) to assess the associations between selected demographic factors and LTL across the LTL distribution. Pearson correlation coefficient and Bland-Altman plot were used to compare SB-LTL and qPCR-LTL measurements. SB-LTL and qPCR-LTL were modestly correlated (r = 0.58, P < 0.001). On average, SB-LTL shortened by 29 base pairs (bp) per year and was 190 bp longer in females than in males. QR analyses showed that the association between SB-LTL and age varied across the LTL distribution, with stronger age-related shortening at higher percentiles (25 bp at the 25th percentile vs. 31 bp at the 75th percentile; P = 0.003). Females had longer SB-LTL than males across all percentiles (P < 0.05 in SB-LTL analysis), and the magnitude of this sex difference did not vary significantly across the LTL distribution (157 bp at the 25th percentile vs. 221 bp at the 75th percentile; P = 0.33). Both SB and qPCR showed an inverse relationship between LTL and age, though the magnitudes differed between methods. Considering the full LTL distribution in studies of lifestyle factors and diseases may provide better molecular insights and guide LTL utilization in health applications.},
}

@article {pmid41618404,
year = {2026},
author = {Guan, X and Zhou, Y and Hong, S and Jiang, Y and Xiao, Y and Wang, C and Fu, M and Zhao, H and Chen, S and Fu, Y and Zhang, Y and Bai, Y and Wang, Y and You, Y and Zhang, Y and Cheng, S and Guo, H},
title = {Epigenome-wide association study of leukocyte telomere length and their effects on smoking-induced lung tumorigenesis: insights from the Dongfeng-Tongji cohort study.},
journal = {Clinical epigenetics},
volume = {},
number = {},
pages = {},
doi = {10.1186/s13148-026-02053-9},
pmid = {41618404},
issn = {1868-7083},
support = {2024ZD0543200//the Noncommunicable Chronic Diseases-National Science and Technology Major Project/ ; 82504505//National Natural Science Foundation of China/ ; 82373667, 82073650 and 82021005//National Natural Science Foundation of China/ ; GZC20250500//Postdoctoral Fellowship Program and China Postdoctoral Science Foundation/ ; 2022CFA098//Natural Science Foundation of Hubei Province/ ; },
abstract = {BACKGROUND: Epigenetic factors underlying telomere length (TL) may provide insight into telomeric homeostasis, with direct links to cigarette smoking and lung cancer susceptibility. It is unclear, nevertheless, to what extent effects of TL and its related DNA methylation on the smoking-induced lung tumorigenesis.

METHODS: A case-cohort study is performed within the Dongfeng-Tongji (DFTJ) cohort, including a randomly selected subcohort of 1399 subjects and 359 incident lung cancer cases. We use a linear regression model to conduct EWAS of TL, while the associations of TL and candidate CpGs with lung cancer risk are evaluated using weighted Cox proportional hazard regression models. Furthermore, the causal inference test (CIT) and mediation analysis are used to elucidate the causality of TL and its relevant CpGs in the smoking-induced lung tumorigenesis. The methylation-expression associations are assessed in SY panel (n = 144), adjacent normal lung tissues (n = 32) and solid normal tissues in TCGA (n = 375).

RESULTS: We identified 31 CpGs with significant associations with TL at FDR < 0.05, and their annotated genes are mainly enriched in oxidative stress, energy metabolism and immunity regulation pathways. Among the 31 TL-related CpGs, 3 CpGs showed substantial associations with both lung cancer risk and smoking status (all FDR < 0.1), including cg26563141 in RGPD1/RGPD2, cg03964851in MIR1974/KIAA0825, and cg08976633 in ZNF74. The further mediation analyses suggest that these three CpGs could mediate 2.89%~8.83% effect on lung cancer risk induced by smoking (all FDR < 0.1). The further CIT and multiple mediation analysis reveal that the effect of smoking on lung cancer risk is primarily mediated by TL (> 10%) while being mildly mediated via DNA methylation pathway (< 1%). Also, hypermethylation of cg26563141 is related to low expression of RGPD1 and RGPD2 across blood and tissue samples.

CONCLUSIONS: Both TL attrition and the three candidate CpGs showed significant mediation effects on lung cancer risk induced by smoking. These findings provide novel insight into the epigenetic control of telomere homeostasis mechanisms and clues for methylation alteration and TL in smoking-induced lung tumorigenesis.},
}

@article {pmid41620865,
year = {2025},
author = {Cherska, M and Kukharchuk, K},
title = {Intima-media thickness, telomere length and neuropsychological status: is there any connection?.},
journal = {Wiadomosci lekarskie (Warsaw, Poland : 1960)},
volume = {78},
number = {12},
pages = {2661-2668},
doi = {10.36740/WLek/213488},
pmid = {41620865},
issn = {0043-5147},
mesh = {Humans ; Male ; Female ; Middle Aged ; *Carotid Intima-Media Thickness ; *Diabetes Mellitus, Type 2/complications ; *Cognitive Dysfunction ; *Telomere ; Aged ; *Intracranial Arteriosclerosis/complications ; Neuropsychological Tests ; Oxidative Stress ; },
abstract = {OBJECTIVE: Aim: To determine the relationship between telomere length and telomerase activity and indicators of oxidative stress in patients with СА and T2DM.

PATIENTS AND METHODS: Materials and Methods: to investigate relationship between telomere length and cognitive function and identify predictors of cognitive impairment in patients with cerebral atherosclerosis and type 2 diabetes mellitus. The MMSE and MoCA scales, which are widely used in most modern epidemiological and clinical studies, were used for screening and assessment of cognitive disorders.

RESULTS: Results: Patients were divided into 2 groups: I - with scores on MMSE scale < 26 (moderate cognitive deficit, 26 people), II - with scores on MMSE scale 3 26 (mild cognitive deficit, 135 people). As a result of analysis, it was found that length of telomeres was statistically significantly shorter in patients of group I, the patients studied less, they had more pronounced situational anxiety, more pronounced intima-media thickness in both carotid arteries, and according to MoCA scale, they had pronounced impairment of cognitive functions (p<0.05). Group II patients had longer telomeres, studied longer, and had high personal anxiety.

CONCLUSION: Conclusions: patients with cerebral atherosclerosis and type 2 diabetes mellitus with mild cognitive impairment have longer telomeres, high personal anxiety, and a higher level of education.},
}

Humans
Male
Female
Middle Aged
*Carotid Intima-Media Thickness
*Diabetes Mellitus, Type 2/complications
*Cognitive Dysfunction
*Telomere
Aged
*Intracranial Arteriosclerosis/complications
Neuropsychological Tests
Oxidative Stress

@article {pmid41616792,
year = {2026},
author = {Manali, ED and Borie, R and Kannengiesser, C and Papiris, SA},
title = {Telomere length, common variants, and rare variants in IPF: a trio of key risk determinants.},
journal = {The Lancet. Respiratory medicine},
volume = {},
number = {},
pages = {},
doi = {10.1016/S2213-2600(25)00456-4},
pmid = {41616792},
issn = {2213-2619},
}

@article {pmid41616669,
year = {2026},
author = {Chen, T and Su, Y and Yang, L and Gu, M and Liang, J and Li, K and Shu, Y and Chen, K and Pang, J and Hu, D and Hu, F and Zhang, M},
title = {Independent and interaction effects of telomere length and life's essential 8 score on the risk of type 2 diabetes mellitus: Findings from a large prospective cohort study.},
journal = {Maturitas},
volume = {206},
number = {},
pages = {108828},
doi = {10.1016/j.maturitas.2026.108828},
pmid = {41616669},
issn = {1873-4111},
abstract = {OBJECTIVE: To investigate the independent and joint effects of leukocyte telomere length and score on the Life's Essential 8 scale on type 2 diabetes mellitus risk using UK Biobank data.

METHODS: A total of 309,288 participants without type 2 diabetes mellitus at baseline were included. Leukocyte telomere length was categorized into quartiles (Q1-Q4), and Life's Essential 8 scores into three groups: low (< 50 points), intermediate (50-79 points) and high (≥ 80 points). Cox proportional-hazards models were used to estimate hazard ratios (HRs) for T2DM. Multiplicative and additive models assessed interactions between leukocyte telomere length and Life's Essential 8 score.

RESULTS: Over a median follow-up of 13.33 years, 9830 participants developed T2DM. Compared with group Q1, the risk of T2DM was reduced by 7% (HR = 0.93, 95%CI: 0.88, 0.99) in the Q4 group. Compared with the low Life's Essential 8 score group, the risk of T2DM was reduced by 70% (HR = 0.30, 95%CI: 0.29, 0.31) and 93% (HR = 0.07, 95%CI: 0.06, 0.08) in the intermediate and high score groups, respectively. The group with long leukocyte telomere length and high Life's Essential 8 score had the most significant reduction in T2DM risk compared with the group with short leukocyte telomere length and low Life's Essential 8 score (HR = 0.07, 95%CI: 0.05, 0.08). Both multiplicative (Pinteraction < 0.001) and additive interactions (S = 1.12, 95%CI: 1.01, 1.25) were observed between the effects of leukocyte telomere length and Life's Essential 8 score on T2DM.

CONCLUSION: Elevated leukocyte telomere length and Life's Essential 8 scores synergistically reduce T2DM risk beyond their individual effects, underscoring the importance of integrated strategies that simultaneously target leukocyte telomere length maintenance and the optimization of cardiovascular-metabolic health in the prevention of T2DM.},
}

@article {pmid41612180,
year = {2026},
author = {Xie, Q and Du, H and Fang, Y and Zhang, B and Yu, L and Rong, D},
title = {Telomere length associates with regenerative capacity in Brassica napus L.},
journal = {BMC plant biology},
volume = {},
number = {},
pages = {},
doi = {10.1186/s12870-026-08215-4},
pmid = {41612180},
issn = {1471-2229},
support = {2023JJ30211//Natural Science Foundation of Hunan Province/ ; 2024JJ4018 to D.R.//Natural Science Foundation of Hunan Province/ ; 2024RC3221 to D.R.//Science and Technology Program of Hunan Province/ ; },
}

@article {pmid41609959,
year = {2026},
author = {Gámez-Macías, PE and Félix-Soriano, E and Sáinz, N and Del Moral, AM and García-Calzón, S and Moreno-Aliaga, MJ and González-Muniesa, P},
title = {Omega-3 dietary supplementation combined with exercise to keep telomere integrity in the liver of aged obese female mice.},
journal = {Journal of physiology and biochemistry},
volume = {82},
number = {1},
pages = {5},
pmid = {41609959},
issn = {1877-8755},
mesh = {Animals ; Female ; *Dietary Supplements ; *Liver/metabolism/drug effects/pathology ; *Obesity/metabolism/therapy/pathology/etiology ; *Physical Conditioning, Animal ; Diet, High-Fat/adverse effects ; Mice ; Oxidative Stress/drug effects ; *Fatty Acids, Omega-3/pharmacology/administration & dosage ; *Telomere/metabolism/drug effects ; Mice, Inbred C57BL ; Forkhead Box Protein O3/genetics/metabolism ; Interleukin-1beta/metabolism/genetics ; Sirtuin 3/genetics/metabolism ; Mice, Obese ; *Telomere Shortening/drug effects ; Superoxide Dismutase-1/genetics/metabolism ; Aging ; },
abstract = {Telomere shortening is a key marker of cellular aging and linked to pathologies such as liver disease. Oxidative stress and inflammation (hallmarks of obesity) contribute to telomere shortening, while omega-3 (DHA) and exercise may counteract these effects by enhancing cellular homeostasis. This study aims to analyze the influence of DHA supplementation and/or exercise over one year on liver telomere length in obese aged mice. Two-month-old female mice were fed either a control or high-fat diet (HFD) for four months. Diet-induced obese (DIO) mice were then assigned to one of four groups: (1) DIO, maintained on an HFD; (2) DIO + EX, subjected to exercise; (3) DIO + DHA, fed an HFD supplemented with DHA; and (4) DIO + DHA + EX, subjected to both exercise and DHA supplementation. The intervention continued until the mice reached 18 months of age. The DIO group showed significant telomere attrition, which was prevented only when omega-3 and exercise were combined. Additionally, only the combined DHA and exercise group improved the expression of genes related to oxidative stress (Sirt3, Foxo3, Sod1, Cat). Interestingly, DHA and exercise separately reduced pro-inflammatory cytokine Il-1b expression compared to the control group, but not when combined. These results indicate that DHA combined with physical exercise could be an effective strategy to maintain telomere integrity in aged obese female mice, due to their antioxidant properties.},
}

Animals
Female
*Dietary Supplements
*Liver/metabolism/drug effects/pathology
*Obesity/metabolism/therapy/pathology/etiology
*Physical Conditioning, Animal
Diet, High-Fat/adverse effects
Mice
Oxidative Stress/drug effects
*Fatty Acids, Omega-3/pharmacology/administration & dosage
*Telomere/metabolism/drug effects
Mice, Inbred C57BL
Forkhead Box Protein O3/genetics/metabolism
Interleukin-1beta/metabolism/genetics
Sirtuin 3/genetics/metabolism
Mice, Obese
*Telomere Shortening/drug effects
Superoxide Dismutase-1/genetics/metabolism
Aging

@article {pmid41604428,
year = {2026},
author = {Akinnibosun, OA and Xu, X and Emmett, A and Nguyen, H and Hames-Fathi, S and Drzal, M and Eales, J and Scannali, D and Prestes, PR and Denniff, M and Bogdanski, P and Zywiec, J and Wystrychowski, W and Zukowska-Szczechowska, E and Guzik, TJ and Samani, NJ and Dormer, J and Tomaszewski, M and Charchar, FJ},
title = {Shorter kidney telomeres are associated with nephrosclerosis by an epigenetic signature.},
journal = {Cardiovascular research},
volume = {},
number = {},
pages = {},
doi = {10.1093/cvr/cvag034},
pmid = {41604428},
issn = {1755-3245},
abstract = {AIMS: Ageing leads to a progressive loss in structural integrity and a functional decline of human organs, alongside telomere attrition and alterations in DNA methylation patterns. Their relationships in the human kidney in the context of ageing remain elusive.

METHODS AND RESULTS: We analysed 200 participants from the Human Kidney Tissue Resource (HKTR) with matching information on kidney histology, renal function, blood leukocyte and kidney telomere length, as well as kidney genome-wide DNA methylation profiles. Additional 71 HKTR individuals without telomere data were used in validation analyses. Kidney telomere length showed a significant inverse association with age (β = -0.029, confidence interval = -0.043 to -0.016, P = 0.00003). Shorter kidney telomeres were strongly associated with both renal structure and function, independent of demographic and clinical confounders. Nephrosclerosis score showed a gradual increase with age categories, while kidney telomere length dropped simultaneously. Leukocyte telomere length was not related to the extent of age-related changes in kidney function or structure. Kidney DNA methylation analysis revealed that kidney CpGs, genes, pathways and chromatin patterns associated with kidney telomere length are partly independent of these associated with chronological age. Consisted of 57 CpGs, epigenetic clock of kidney telomere length showed a predictive potential for nephrosclerosis, independent of clinical cofounders, chronological and epigenetic age.

CONCLUSION: Our study revealed that gradual age-related structural involution of human kidney and a decline in its filtration capacity are accompanied by shortening of telomeres in renal cells and that changes in the kidney epigenome (i.e., DNA methylation) may contribute to nephrosclerosis (at least in part) independently of chronological age.},
}

@article {pmid41594622,
year = {2026},
author = {Liu, J and Yin, D and Ma, F and Jiang, M and Wang, X and Wang, P and Liu, K},
title = {Telomere-to-Telomere Genome Assembly of Two Hemiculter Species Provide Insights into the Genomic and Morphometric Bases of Adaptation to Flow Velocity.},
journal = {Biomolecules},
volume = {16},
number = {1},
pages = {},
doi = {10.3390/biom16010083},
pmid = {41594622},
issn = {2218-273X},
support = {NO.2023TD11//Central Public-interest Scientific Institution Basal Research Fund, CAFS/ ; NO. 2024BFAFZ02936//Monitoring of aquatic resources in key waters of Anhui province Fund/ ; NO. 2024XT1003//Central Public-interest Scientific Institution Basal Research Fund，CAFS/ ; },
mesh = {Animals ; *Telomere/genetics ; *Genome ; *Adaptation, Physiological/genetics ; Genomics ; Hydrodynamics ; },
abstract = {Flow velocity is a key environmental factor that exerts multifaceted effects on fish growth and adaptation. Through long-term natural selection, fish have evolved adaptability to specific flow conditions, which not only relate to oxygen supply and food acquisition but also play a decisive role in reproduction, development, and population maintenance. To investigate the genomic mechanisms through which hydrodynamic environments drive divergence in closely related species, we focused on two sister species, Hemiculter bleekeri and Hemiculter leucisculus, which are adapted to contrasting flow regimes. We generated high-quality, chromosome level telomere-to-telomere (T2T) genomes and integrated comparative genomic analyses, we investigated the genetic basis underlying body shape regulation and reproductive strategies, aiming to decipher the adaptive evolutionary patterns of these species in response to differing hydrodynamic conditions from an integrated genotype phenotype perspective. We integrated PacBio HiFi, Hi-C, and Oxford Nanopore Technologies (ONT) ultra-long read sequencing data to construct high-quality T2T reference genomes for both species. The final genome assemblies are 0.998 Gb for H. bleekeri and 1.05 Gb for H. leucisculus, with each species possessing 24 chromosomes and all chromosomal sequences assembled into single contigs. Contig N50 values reached 40.45 Mb and 40.66 Mb, respectively, and both assemblies are gap-free. BUSCO assessments yielded completeness scores of 99.34% for both genomes, confirming their high continuity and accuracy. Integrated morphometric and genomic analyses revealed distinct adaptive strategies in two Hemiculter Species. H. bleekeri has evolved a streamlined body, underpinned by expansions in body shape related genes, and a pelagic egg strategy. In contrast, the adhesive egg strategy of H. leucisculus is supported by expansions in adhesion-related gene families. This divergence reflects adaptation to distinct flow velocity. By combining high-quality chromosome-level T2T genomes with morphometric and comparative genomic approaches, this study establishes a comprehensive framework for understanding the molecular mechanisms underlying adaptive evolution in freshwater fishes inhabiting contrasting flow velocity.},
}

Animals
*Telomere/genetics
*Genome
*Adaptation, Physiological/genetics
Genomics
Hydrodynamics

@article {pmid41587130,
year = {2026},
author = {Chu, W and Yu, C and Chu, W and Li, W},
title = {Association Between Telomere Length and Thyrotoxicosis: Insights from a Two-sample Mendelian Randomization Study.},
journal = {Journal of visualized experiments : JoVE},
volume = {},
number = {227},
pages = {},
doi = {10.3791/69618},
pmid = {41587130},
issn = {1940-087X},
mesh = {*Thyrotoxicosis/genetics ; Humans ; *Mendelian Randomization Analysis/methods ; Genome-Wide Association Study/methods ; *Telomere/genetics ; },
abstract = {Thyrotoxicosis is an endocrine disorder characterized by excess thyroid hormones, yet its etiologic links to systemic aging biology remain incompletely defined. Telomere length (TL) reflects cellular senescence and genome stability and has been implicated in multiple complex diseases. We conducted a two-sample Mendelian randomization (MR) study to evaluate the causal effect of genetically predicted TL on the risk of thyrotoxicosis. Genetic instruments for TL were derived from a large genome-wide association study (GWAS) of European ancestry (n > 470,000). Thyrotoxicosis summary statistics were obtained from the latest FinnGen release (≈4,000 cases and >210,000 controls). Primary inverse-variance-weighted analyses indicated that longer genetically proxied TL is associated with a lower risk of thyrotoxicosis, and the direction and magnitude of the effect were consistent across complementary estimators (MR-Egger, weighted median/maximum likelihood, MR-PRESSO, and MR-RAPS). Sensitivity analyses showed no evidence of directional pleiotropy, and Cochran's Q was used to assess heterogeneity. A Steiger directionality test supported the causal flow from TL to thyrotoxicosis. To our knowledge, this work is among the first MR analyses to assess the causal relationship between overall thyrotoxicosis risk and TL using contemporary GWAS resources, extending prior evidence focused on hyperthyroidism-related phenotypes. These findings suggest that cellular aging processes indexed by TL may contribute to thyrotoxicosis susceptibility and motivate future longitudinal and mechanistic studies on telomere biology in thyroid dysfunction.},
}

*Thyrotoxicosis/genetics
Humans
*Mendelian Randomization Analysis/methods
Genome-Wide Association Study/methods
*Telomere/genetics

@article {pmid41586235,
year = {2025},
author = {Xue, Q and Chen, H},
title = {Associations between leukocyte telomere length and three measures of folate status: a cross-sectional analysis of NHANES 1999-2002.},
journal = {Frontiers in nutrition},
volume = {12},
number = {},
pages = {1714482},
pmid = {41586235},
issn = {2296-861X},
abstract = {BACKGROUND: Shortening of leukocyte telomere length (LTL) is a core hallmark of cellular senescence. Folate provides essential methyl groups for DNA synthesis and repair, theoretically capable of slowing telomere attrition by maintaining genomic integrity. However, current epidemiological studies on folate and LTL are still limited, and most prior investigations have relied on a single metric of folate status.

OBJECTIVE: This study aimed to investigate the associations between LTL and three measures of folate status, dietary intake, serum folate and red blood cell (RBC) folate, to provide more precise epidemiological evidence of folate's role in cellular aging and to establish a scientific basis for potential nutritional intervention strategies.

METHODS: This cross-sectional analysis included 7,324 participants from the National Health and Nutrition Examination Survey (NHANES) 1999-2002. Multivariable linear regression models, adjusted for demographic, lifestyle, and nutritional factors, were used to assess associations. Restricted cubic splines and piecewise linear regression were employed to evaluate non-linear relationships.

RESULTS: After full adjustment, both serum and RBC folate showed positive linear associations with longer LTL (P for trend < 0.05). Dietary folate exhibited a non-linear relationship with LTL (P for non-linearity < 0.05). Meeting the recommended intake (≥400 μg/day) was associated with longer telomeres (β = 0.05, 95% CI: 0.03-0.06). A saturation effect was observed; beyond 500.86 μg/day (95% CI: 490.71-511.01), further intake did not significantly increase LTL.

CONCLUSION: Adequate folate status is associated with longer telomeres, supporting a role in mitigating cellular aging. Dietary intake ≥400 μg/day is beneficial, but exceeding ~500 μg/day offers no further advantage.},
}

@article {pmid41585361,
year = {2025},
author = {Wakai, TN and Yensii, NG and Kernyuy, FB and Bella-Omunagbe, M and Chinedu, SN and Afolabi, IS},
title = {Global research landscape of telomere biology in infectious diseases: mechanistic links between host-pathogen interactions and immune ageing.},
journal = {Frontiers in aging},
volume = {6},
number = {},
pages = {1729868},
pmid = {41585361},
issn = {2673-6217},
abstract = {Telomeres, nucleoprotein structures located at the ends of chromosomes, maintain genomic stability and regulate cellular lifespan, particularly in immune cells. Telomere shortening, driven by cell division and limited telomerase activity, accelerates immune ageing and increases susceptibility to infectious diseases. Chronic infections like HIV and tuberculosis exacerbate telomere attrition through sustained immune activation and oxidative stress. This study presents a bibliometric review of research on telomere length and infectious diseases from 2005 to 2025. Data from the Web of Science Core Collection were analysed using VOSviewer and CiteSpace, software tools for visualising co-authorship, citation, and keyword networks, to assess publication trends, collaborations, and themes. A total of 123 publications were identified, showing steady growth with a 60% increase in publications from 2020 to 2022 during the COVID-19 pandemic. Leading journals included Frontiers in Immunology, PLoS ONE, and Scientific Reports. The United States produced the largest share of publications, followed by Canada and Spain, with notable contributions from the University of British Columbia and Université de Montréal. Influential authors such as Côté HCF, Pick N, and Maan EJ have advanced research, particularly in the areas of HIV and tuberculosis. Keyword analysis highlighted two dominant themes: immune ageing and infection-related stress. Malaria research was comparatively scarce, underscoring a gap for future investigation. These findings inform future research on telomere-targeted interventions and epidemiological studies aimed at enhancing infectious disease management. This review provides a comprehensive overview of the field's progress and identifies key areas for future investigation.},
}

@article {pmid41582951,
year = {2025},
author = {Berzins, U and Baronins, J and Sorokins, H and Goel, S and Shishkin, A and Zvirgzdina, R and Rautmane, A and Minchev, D},
title = {Small adipose-derived mesenchymal stromal cells exhibit longer telomeres and enhanced regenerative potential.},
journal = {Frontiers in bioengineering and biotechnology},
volume = {13},
number = {},
pages = {1687461},
pmid = {41582951},
issn = {2296-4185},
abstract = {Younger, replicative cells with longer telomeres can enhance regenerative therapies, however, there is a lack of a standard method to assess telomere length in live cells. The present study investigated whether the relative size of human adipose tissue-derived mesenchymal stromal cells (AD-MSCs) can influence their telomere length. During early culture, a smaller-sized AD-MSC subpopulation was identified based on characteristic colony emergence. Telomere lengths in total and smaller-sized cell populations were measured. Polymerase chain reaction revealed expression of Nanog and OCT3/4 in small-sized AD-MSCs. Their safety was evaluated in immunodeficient BALB/c nude mice. Smaller AD-MSCs revealed distinct growth properties, with the cell monolayer rolling up into a large aggregate. These cells had longer telomeres (18,121.43 base pairs [bp]) than the total population (15,870.44 bp) and formed teratoma-like structures with skin-like morphology (including hair). In conclusion, AD-MSC size reliably isolates cells with longer telomeres and potential.},
}

@article {pmid41582446,
year = {2026},
author = {Cao, X and Zeng, T and Bai, S and Li, S and Liu, Y and Fang, L and Fang, X and Chen, Q and Lu, C and Yang, H},
title = {T-Cell "Rejuvenation" Nanovaccine: Enhancing Immunological Memory and Antitumor Responses through Telomere Extension.},
journal = {Journal of the American Chemical Society},
volume = {},
number = {},
pages = {},
doi = {10.1021/jacs.5c21977},
pmid = {41582446},
issn = {1520-5126},
abstract = {Replicative senescence in immune cells undermines vaccine efficacy, with telomere attrition recognized as a key factor to cellular senescence. Studies have shown that the extracellular vesicles (EVs) of bone marrow-derived dendritic cells (BMDCs), which contain the telomeric compounds, can promote telomerase-independent T-cell telomere extension via telomere transfer. Based on this mechanism, we designed a long-term memory T-cell vaccine (LMT/OT-II), which is composed of EVs from BMDCs carrying the ovalbumin peptide OT-II. This vaccine not only enhances antigen presentation but also extends T-cell telomere length, enhancing T-cell vitality and restoring youthful characteristics. To further enhance the antitumor effects, we incorporated the immune adjuvant Poly(I:C) to activate T cells. In both young and aged mouse models, the LMT/OT-II + Poly(I:C) effectively suppressed the growth of B16-OVA melanoma and significantly prolonged the survival of the mouse models. We further developed the LMT/Adpgk + Poly(I:C) vaccine based on mouse colon cancer cell (MC38) neoantigen peptide, which also showed promising results in mice. Through telomere transfer to restore T-cell function and enhance immune memory, our study provides a novel and universal strategy for developing more effective and durable T-cell vaccines, particularly for diseases associated with immunosenescence.},
}

@article {pmid41581471,
year = {2026},
author = {Vaez-Mahdavi, MR and Jamali, T and Behboudi, H and Homayounfar, R and Mojtahed, M and Ghazanfari, T and Ardestani, SK},
title = {Accelerated senescence in sulfur mustard-exposed individuals: Evidence from oxidative DNA damage, telomere shortening, and dietary inflammatory index.},
journal = {Ecotoxicology and environmental safety},
volume = {310},
number = {},
pages = {119722},
doi = {10.1016/j.ecoenv.2026.119722},
pmid = {41581471},
issn = {1090-2414},
abstract = {Sulfur mustard (SM) exposure induces respiratory complications, known as "mustard lung (ML)" through oxidative stress and chronic inflammation. This study investigated premature cellular senescence as a marker of systemic aging in SM-exposed veterans with serious pulmonary conditions, focusing on oxidative stress, DNA damage, telomere shortening, and OGG1/p16 gene expression, as well as the role of pro-inflammatory dietary patterns measured by the Dietary Inflammatory Index (DII). The study included SM-exposed veterans and healthy controls. Veterans were clinically categorized based on severity and resemblance to chronic bronchitis (CB), bronchial obliterans (BO), or asthma. Leukocyte telomere length (LTL) was assessed using MMqPCR, oxidative DNA damage (8-oxo-dG) via ELISA, and OGG1/p16 gene expression by q-PCR. DII was calculated from dietary intake data. Compared to controls, SM-exposed veterans exhibited shorter telomeres, higher p16 expression, elevated 8-oxo-dG levels, and upregulated OGG1 expression, reflecting accelerated aging and oxidative DNA damage. Asthma, BO, and CB-like subgroups shared similar trends, with variations in oxidative damage and telomere shortening. The ML group had higher DII scores correlated with shorter telomeres and increased p16 expression. These findings suggest that SM exposure, coupled with pro-inflammatory dietary patterns, accelerates cellular aging through oxidative damage and inflammation. Markers such as telomere shortening, OGG1, and p16 expression signify SM-induced damage, while 8-oxo-dG levels can indicate disease severity. In addition, variations in 8-oxo-dG levels and telomere shortening can assist in distinguishing between corresponding asthma, BO, and CB. Ultimately, this study underscores the importance of targeted interventions, including dietary modifications, to mitigate the long-term effects of SM exposure and improve outcomes for affected individuals.},
}

@article {pmid41578880,
year = {2026},
author = {Rossini Venturini, AC and Fogagnolo, C and Ortiz, GU and da Silva Rodrigues, G and da Silva, AP and Noronha, NY and Abud, GF and Silva, BM and Benzoni, GG and de Souza Pinhel, MA and Watanabe, LM and Sae-Lee, C and Travieso, SG and de Lima Viliod, MC and Nonino, CB and da Silva, ASR and de Freitas, EC},
title = {Accelerated epigenetic aging and shorter DNA methylation-based telomere length in sarcopenic obesity: an exploratory pilot study.},
journal = {Epigenomics},
volume = {},
number = {},
pages = {1-15},
doi = {10.1080/17501911.2026.2617179},
pmid = {41578880},
issn = {1750-192X},
abstract = {BACKGROUND: Sarcopenic obesity (SO), defined as the coexistence of excess fat mass and low muscle mass/function, has been linked to adverse outcomes. Epigenetic alterations are central hallmarks of aging. Evaluating how obesity, sarcopenia, and SO are related to epigenetic aging biomarkers may provide insights into cellular aging and disease risk.

METHODS: In this cross-sectional study, 30 older women were classified into the control, obesity, sarcopenia, and SO groups and underwent anthropometry measurements, body composition analysis, and handgrip strength. Blood DNA methylation (DNAm) biomarkers were used to estimate eight epigenetic clocks (Horvath, Hannum, DNAmTL, PhenoAge, GrimAge, GrimAge2, Zhang, and FitAge) and to calculate intrinsic and extrinsic epigenetic age acceleration (IEAA and EEAA). Associations were tested with Bayesian linear and quantile regressions, adjusted for age and HOMA-IR.

RESULTS: SO was associated with higher EEAA, DNAmFitAge, and Hannum clock estimates, and shorter DNAmTL in both models. Obesity showed positive associations with these clocks in adjusted models and higher quantiles.

CONCLUSIONS: SO is associated with accelerated aging and shorter DNAmTL. Obesity contributes to biological aging, whereas sarcopenia without obesity does not. These findings suggest that excess adiposity combined with low muscle mass may worsen age-related decline, although the small sample size should be considered.},
}

@article {pmid41577032,
year = {2026},
author = {Lin, R and Gross, JM and Xing, D and Argani, P and Lotan, T and Meeker, AK and Baraban, E},
title = {Alternative Lengthening of Telomeres in Malignant PEComas: Correlation with Molecular Features Including ATRX Gene Mutation Status.},
journal = {Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc},
volume = {},
number = {},
pages = {100964},
doi = {10.1016/j.modpat.2026.100964},
pmid = {41577032},
issn = {1530-0285},
abstract = {A subset of perivascular epithelioid cell neoplasms (PEComas) is histologically malignant and at high risk for metastasis, and there is limited literature available on the genetic features of these lesions. In addition to driver alterations in the TSC/mTOR pathway or TFE3 fusions, recurrent ATRX mutations have been identified in malignant PEComas. ATRX mutations have been tightly associated with the Alternative Lengthening of Telomeres (ALT) phenotype in a variety of other tumor types. Whether malignant PEComas - regardless of ATRX mutational status - harbor the ALT phenotype has not been characterized. We conducted immunohistochemistry (IHC), next-generation sequencing (NGS), and telomere-specific fluorescence in situ hybridization (FISH) on a cohort of 32 malignant PEComas to evaluate for the ALT phenotype and to correlate with underlying genomic features. TSC1/2/mTOR/RICTOR mutations or TFE3 translocations were detected in 16/31 cases (52%) by NGS. Recurrent ATRX alterations were identified in 10 cases (32%). Sixteen cases underwent ALT FISH, 8 of which harbored ATRX alterations by NGS and/or ATRX loss by IHC, and 8 cases without detectable ATRX alterations by NGS or loss by IHC. 12 of these 16 cases demonstrated the ALT phenotype by FISH (75%). All 8 cases with ATRX mutations were ALT positive by FISH (100%). In 8 cases without ATRX alterations by NGS, 4 cases demonstrated ALT by FISH (50%). Of these 4 ALT-positive cases lacking ATRX genomic alterations, IHC revealed ATRX protein loss in 1 case. Overall, ATRX alterations were identified in 75% of ALT-positive tumors. Our study provides the first correlation between ALT and genomic features of malignant PEComas, demonstrating that ATRX alterations invariably predict ALT, but that a subset of tumors without mutations in known ALT suppressor genes also activate ALT. These findings confirm that the association between ATRX alterations and ALT observed in other tumor types applies to PEComas and indicate that in a subset of cases, ALT may be activated by ATRX independent mechanisms.},
}

@article {pmid41577003,
year = {2026},
author = {Zade, NH and Jain, M and Garg, M and Checker, R and Ghosh, A and Khattar, E},
title = {Proteomics method for identifying POT1-associated complexes at telomeres using ChIP-Mass spectrometry.},
journal = {Methods (San Diego, Calif.)},
volume = {},
number = {},
pages = {},
doi = {10.1016/j.ymeth.2026.01.007},
pmid = {41577003},
issn = {1095-9130},
abstract = {POT1 is the only single stranded telomere binding protein in the shelterin complex. Together with TPP1, POT1 plays a crucial role in regulating telomere length and protecting telomeres from DNA damage repair proteins. The activation of DNA damage repair proteins at telomeres can be detrimental to cells, so their activity must be suppressed. POT1 interacts with other telomeric proteins (TRF2, TRF1, TIN2 and RAP1) via its association with TPP1. These proteins function together to protect and maintain the telomeres. Despite extensive knowledge of POT1's role within the shelterin complex, the full spectrum of its interactors at the single-stranded telomeric overhang remains poorly defined. To study these interactions, we generated an endogenous Flag-tag knock-in of POT1 using the CRISPR-Cas9 gene editing system. To address the risk of unintended gene disruption associated with this technique, we conducted an in-depth characterization of the endogenously Flag-tagged POT1 clone to ensure that its telomere and TPP1 binding functions remained intact. Further, we performed proteomic profiling of the Flag-tagged POT1 within the chromatin fraction using ChIP-MS to explore its proteome. Our analysis uncovered a novel set of POT1-associated proteins at the extremes of telomeres. Given that POT1 exclusively binds to the single-stranded 3' overhang of telomeres, the proteomic data obtained indicates POT1 interactions occurring at the extreme ends of telomeres. In conclusion, our study reveals previously uncharacterized POT1 associated proteins using ChIP mass spectrometric approach, paving the way for further investigations into telomere biology and potential therapies targeting telomere regulation.},
}

@article {pmid41575151,
year = {2026},
author = {Krapivin, MI and Pendina, AA and Komarova, EM and Tikhonov, AV and Trusova, ED and Staroverov, DA and Pashkova, EP and Golubeva, AV and Sagurova, YM and Efimova, OA},
title = {Telomere length changes during genome-wide epigenetic reprogramming in human preimplantation embryos.},
journal = {Reproduction (Cambridge, England)},
volume = {171},
number = {1},
pages = {},
doi = {10.1093/reprod/xaaf005},
pmid = {41575151},
issn = {1741-7899},
support = {//Russian Science Foundation/ ; },
mesh = {Humans ; *Blastocyst/metabolism/cytology ; *Epigenesis, Genetic ; *Telomere/genetics ; Female ; *Telomere Homeostasis ; *Embryonic Development/genetics ; *Cellular Reprogramming/genetics ; Male ; In Situ Hybridization, Fluorescence ; *Genome, Human ; },
abstract = {We report on the telomere length (TL) changes in metaphase chromosomes throughout preimplantation development of human embryos-a period of genome-wide epigenetic reprogramming. Using semiquantitative fluorescence in situ hybridization, we measured relative TLs in the metaphase chromosomes of 69 preimplantation embryos from the zygote up to and including the blastocyst stage. Relative TLs increased significantly from zygote to the 2-5-cell stage, remained almost unchanged at the stages of 2-5 and 6-12-cells and decreased by the blastocyst stage. Concurrently with relative TL decrease at the blastocyst stage, an increase in interindividual TL variability occurred. The zygote-inherited, but not newly synthesized chromatids maintained parent-specific telomeres (longer in paternal compared to maternal chromosomes) up to and including the 2-5-cell stage, with a follow-up TL equalization in 6-12-cell embryos. The extent of interchromatid TL asymmetry-a phenomenon potentially linked to telomere lengthening through recombination-was assessed by TL ratios between sister chromatids and showed similar patterns across all stages of preimplantation development. The longer telomere is presumably located in the highly hydroxymethylated sister chromatid of hemihydroxymethylated chromosomes, i.e., those having higher 5-hydroxymethylcytosine content in one sister chromatid than in the other due to global epigenetic reprogramming in early embryogenesis. To conclude, our study suggests that in human preimplantation development telomeres are reprogrammed in conjunction with genome-wide epigenetic reprogramming of an embryo. By the blastocyst stage, when epigenetic reprogramming comes to an end, parent-specific TLs are also completely reprogrammed and every embryo develops its own unique TL pattern.},
}

Humans
*Blastocyst/metabolism/cytology
*Epigenesis, Genetic
*Telomere/genetics
Female
*Telomere Homeostasis
*Embryonic Development/genetics
*Cellular Reprogramming/genetics
Male
In Situ Hybridization, Fluorescence
*Genome, Human

@article {pmid41574981,
year = {2026},
author = {Ramos-Campoy, S and Puiggros, A and Kamaso, J and Parker, H and Rigolin, GM and Haferlach, C and Larráyoz, MJ and Collado, R and Salgado, R and Calasanz, MJ and Etter, L and Valiente, A and Abrisqueta, P and Bosch, F and Gimeno, E and Cuneo, A and Nguyen-Khac, F and Schoumans, J and Strefford, JC and Espinet, B},
title = {Exploring the synergy between telomere length and genomic complexity in CLL.},
journal = {British journal of haematology},
volume = {},
number = {},
pages = {},
doi = {10.1111/bjh.70317},
pmid = {41574981},
issn = {1365-2141},
}

@article {pmid41574636,
year = {2026},
author = {Franco, G and Bruno, LP and Alviano, AM and Vankann, L and Brümmendorf, T and Guerra, F and Vendemini, F and Faverio, P and L'Imperio, V and Cazzaniga, G and Luppi, F and Biondi, A and Balduzzi, A and Beier, F and Saettini, F},
title = {Cytopenia, Hypocellular Bone Marrow, and Shortened Telomere Length Beyond Biallelic Telomere Biology Gene Mutations.},
journal = {Pediatric blood & cancer},
volume = {},
number = {},
pages = {e70150},
doi = {10.1002/1545-5017.70150},
pmid = {41574636},
issn = {1545-5017},
}

@article {pmid41571710,
year = {2026},
author = {Wang, P and Wang, X and Yin, D and Liu, J and Jiang, M and Liu, K},
title = {Telomere-to-telomere gap-free genome assembly of the Opsariichthys evolans (Cypriniformes: Cyprinidae).},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-026-06588-7},
pmid = {41571710},
issn = {2052-4463},
abstract = {Opsariichthys evolans is a stream-dwelling fish species endemic to China, with its primary distribution encompassing southeastern China and Taiwan. Initially classified under the genus Zacco, it was later reclassified into the genus Opsariichthys based primarily on mitochondrial DNA evidence. However, this taxonomic revision remains partially inconclusive due to the absence of whole-genome data. Therefore, we assembled a telomere-to-telomere, gap-free genome assembly of O. evolans, consisting of 39 chromosomes with one contiguous sequence per chromosome. The assembly had a total size of 886.9 Mb and a contig N50 of 25.44 Mb. The presence of the telomere repeat was clearly confirmed in the genome. BUSCO assessment confirmed 99.34% genome completeness. Collinearity analysis revealed high synteny between O. evolans, O. bidens and Zacco platypus. Genomic comparisons revealed key candidate genes and related biological pathways potentially responsible for color patterning and hydrodynamic adaptation. The complete O. evolans genome provides insights into its genome structure and function, and supports the taxonomic reclassification between the genera Opsariichthys and Zacco.},
}

@article {pmid41571554,
year = {2026},
author = {Brandt, M and Khraisat, S and Luo, Q and Mayerle, M and Raaz, U and Tsao, P and Münzel, T and Lurz, P and Wenzel, P and Blau, HM},
title = {Integrative transcriptomic profiling links telomere dysfunction to cGAS-STING activation in heart failure signatures in mice and humans.},
journal = {Cardiovascular research},
volume = {},
number = {},
pages = {},
doi = {10.1093/cvr/cvag013},
pmid = {41571554},
issn = {1755-3245},
abstract = {AIMS: Cardiomyocyte telomere shortening is evident during heart failure pathogenesis. Conversely, mice with engineered telomerase deficiency develop myocardial dysfunction accompanied by p53 activation and mitochondrial repression. Yet, critical aspects remain to be established: whether cardiac dysfunction in mice lacking telomerase components arises from myocardial-intrinsic effects or systemic consequences of telomere shortening, which broader transcriptional programs follow cardiomyocyte telomere shortening, and what implications these carry for clinical heart failure.

METHODS AND RESULTS: As a prerequisite, we generated telomerase-deficient mice across successive generations and confirmed increasing cardiac dysfunction by comprehensive cardiovascular phenotyping and assessment of mitochondrial function in isolated cardiomyocytes.Transcriptional and regulator analysis confirmed the telomere-p53-mitochondria axis but extended beyond it, revealing additional involvement of neurohumoral activation, senescence, and inflammation, notably type I interferon signaling. To contextualize these findings, we compared this profile with hypertensive heart failure induced by neurohumoral dysregulation (angiotensin II infusion, nephrectomy, salt overload; ANS model) and established a transcriptional hierarchy. In mTRG5 mice, regulators of telomere dysfunction and p53 activation ranked highest by significance and centrality, supporting telomere shortening as the primary upstream driver. In contrast, ANS mice showed higher-ranking neurohumoral regulators, indicating these govern secondary pathways.To pursue the strong type 1 interferon profile, we utilized myocardial profiles of mice with a lack of three-prime exonuclease 1 (TREX1), an established activator of the cGAS-STING pathway. Matching the profiles, we could confirm pronounced activity of cGAS-STING in mTRG5- and to a lesser degree in ANS mice and thus provide first evidence for cGAS-STING-activation in telomere shortening and heart failure.

CONCLUSION: Finally, comparing the mTRG5 profile to curated datasets of human and murine dilated- and ischemic cardiomyopathy revealed a robust statistical overlap, proportional to the heart failure severity in mice and man, fostering the clinical relevance.},
}

@article {pmid41567226,
year = {2025},
author = {Behar-Lagares, R and Virseda-Berdices, A and Martínez-González, Ó and Blancas, R and Manteiga, E and Muñoz-García, P and Mallol Poyato, MJ and Molina Del Pozo, J and Homez-Guzmán, M and Alonso Fernández, MA and Resino, S and Fernández-Rodríguez, A and Jiménez-Sousa, MÁ},
title = {Gender-based differences in telomere attrition and long-term respiratory dysfunction in COVID-19 ICU survivors one year post-infection: implications for aging-associated pulmonary decline.},
journal = {Frontiers in immunology},
volume = {16},
number = {},
pages = {1681454},
pmid = {41567226},
issn = {1664-3224},
mesh = {Humans ; Female ; Male ; *COVID-19/complications ; Middle Aged ; Aged ; Survivors ; Intensive Care Units ; *SARS-CoV-2 ; Sex Factors ; *Telomere ; *Telomere Shortening ; *Aging ; },
abstract = {INTRODUCTION: A significant proportion of COVID-19 Intensive Care Unit (ICU) survivors develop long-term respiratory complications, including pulmonary fibrosis. Telomere attrition, a marker of cellular senescence, has emerged as a potential biomarker for post-COVID-19 sequelae. This study investigated the association between peripheral blood relative telomere length (RTL) and long-term pulmonary outcomes in COVID-19 ICU survivors, with a specific focus on gender-specific differences.

METHODS: ICU-admitted COVID-19 patients were followed for at least one year post-discharge. RTL was quantified from peripheral blood using monochromatic multiplex quantitative PCR (MMqPCR) at hospital admission and one-year post-discharge. Primary outcomes were respiratory symptoms and diffuse parenchymal lung disease (DPLD), assessed via imaging. Data were analyzed using gender-stratified generalized linear models, adjusted for clinical covariates.

RESULTS: At one year, 43.8% of patients reported respiratory symptoms and 23.9% developed DPLD. A total of 73 ICU survivors were included, with 51 men and 22 women. At one year, 43.8% of patients reported respiratory symptoms and 23.9% developed DPLD. Longitudinal analysis showed significant RTL shortening in both men and women who underwent IMV (p=0.011 and p=0.016, respectively), and in men who needed pronation during their ICU stay (p=0.037). Regarding one-year symptoms, in women, repeated-measures analysis showed an association with persistent respiratory symptoms, particularly in those who needed pronation during their ICU stay [adjusted arithmetic mean ratio (aAMR)=0.73) (95%CI=0.60-0.90); p=0.003]. At follow-up, women who had undergone pronation and had shorter RTL continued to show a higher prevalence of symptoms [aAMR= 0.66 (0.58-0.76); p< 0.001]. In contrast, men with shorter RTL at one-year post-discharge had an association with the presence of DPLD [aAMR = 0.64 (0.50-0.81); p = 0.001]. This association in men was significant particularly among those who required IMV [aAMR= 0.61 (0.49-0.76); p< 0.001] or prone positioning [aAMR= 0.56 (0.44-0.71); p= 0.016].

DISCUSSION: These findings underscore the role of telomere attrition as a sex-specific biomarker of aging-associated pulmonary vulnerability in the aftermath of critical COVID-19 illness. RTL may serve as a prognostic marker for long-term respiratory sequelae, potentially guiding risk stratification and individualized follow-up strategies in post-ICU COVID-19 survivors.},
}

Humans
Female
Male
*COVID-19/complications
Middle Aged
Aged
Survivors
Intensive Care Units
*SARS-CoV-2
Sex Factors
*Telomere
*Telomere Shortening
*Aging

@article {pmid41565875,
year = {2026},
author = {Langsenlehner, T and Paal, K and Thurner, EM and Genser, S and Sternat, R and Stranz, B and Renner, W},
title = {Leukocyte telomere attrition following radiotherapy in prostate cancer: a prospective study.},
journal = {Scientific reports},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41598-026-36205-x},
pmid = {41565875},
issn = {2045-2322},
abstract = {Telomeres are protective protein-bound DNA repeat structures at the end of chromosomes, which play a critical role in maintaining chromosomal stability. With each somatic-cell division, telomeres progressively shorten, making telomere length a potential biomarker of biological aging. Ionizing radiation may accelerate telomere attrition, thereby promoting aging-related changes. In the present study, we analyzed the influence of radiotherapy on leucocyte telomere length in prostate cancer patients. A total of 314 patients treated with curative radiotherapy for prostate cancer were included in the present prospective study. Leukocyte relative telomere length (RTL) was measured by qPCR in peripheral blood samples collected before radiotherapy, at the end of radiotherapy, and at 3 and 15 months post-radiotherapy. Mean RTL values were 0.65 ± 0.34 at baseline, 0.62 ± 0.31 at the end of radiotherapy, 0.67 ± 0.43, and 0.55 ± 0.26 at the first and at the second follow-up, respectively. . Paired-Samples T-Test comparisons showed a significant reduction in RTL at 15 months post- radiotherapy compared to baseline (p < 0.001), end of radiotherapy (p = 0.001), and 3-month follow-up examination (p < 0.001). In our cohort, we observed a significant shortening of telomeres after radiotherapy indicating a potential contribution to accelerated cellular aging.},
}

@article {pmid41565372,
year = {2026},
author = {Ting, TL and Lee, YT},
title = {Title: Mitochondrial Integrity, Telomere Dynamics, and Causal Pathways in Pulmonary Fibrosis: Reappraisal of a Mendelian Analysis.},
journal = {QJM : monthly journal of the Association of Physicians},
volume = {},
number = {},
pages = {},
doi = {10.1093/qjmed/hcag023},
pmid = {41565372},
issn = {1460-2393},
}

@article {pmid41565371,
year = {2026},
author = {Li, Y and Hou, L},
title = {Reply: Comment on "New insights from mendelian randomization and mediation analysis: causal relationships between mitochondrial DNA copy number and telomere length in pulmonary fibrosis".},
journal = {QJM : monthly journal of the Association of Physicians},
volume = {},
number = {},
pages = {},
doi = {10.1093/qjmed/hcag025},
pmid = {41565371},
issn = {1460-2393},
}

@article {pmid41564788,
year = {2026},
author = {Hakobyan, M and Binder, H and Arakelyan, A},
title = {Correction: Pan-cancer analysis of telomere maintenance mechanisms.},
journal = {The Journal of biological chemistry},
volume = {302},
number = {2},
pages = {111130},
doi = {10.1016/j.jbc.2025.111130},
pmid = {41564788},
issn = {1083-351X},
}

@article {pmid41564438,
year = {2026},
author = {Davidson-Swinton, HR and Iyer, S and Kolchinski, A and Salem, JA and DeBoy, EA and Kilada, AG and Hwang, JS and Jain, T and Keel, SB and Gocke, CD and Zou, YS and Schratz, KE and Armanios, M},
title = {Lymphoid malignancy and clonality in the POT1-mediated long telomere syndrome.},
journal = {Blood},
volume = {},
number = {},
pages = {},
doi = {10.1182/blood.2025031287},
pmid = {41564438},
issn = {1528-0020},
abstract = {Long telomere length (TL) extends replicative capacity in vitro, and predisposes to clonal hematopoiesis. We characterized the cancer phenotype in 51 individuals from 24 families with mutant POT1, a negative regulator of telomerase elongation (median age 51, range 5-94). Hematologic malignancies were second in prevalence after melanoma (27%), and lymphoid subsets were more common. They clustered with history of sarcoma, thyroid cancer and chronic myeloproliferative neoplasms. UKB participants with pathogenic POT1 variants had long TL and higher lymphoid malignancy rates (45% by age 80, Hazard ratio 8.28, 95% CI, 5.29-13.0). Across cohorts, diagnoses encompassed acute lymphoblastic leukemia and Hodgkin lymphoma in children/young adults, and chronic lymphocytic leukemia/multiple myeloma in adults. They clustered in families manifesting as autosomal dominant pan-lymphoma with genetic anticipation at times. Lymphocyte TL was longer than granulocytes at baseline (age-adjusted mean +1 kb, P<0.0001), and was preserved longitudinally with aging. Ultra-long lymphocyte TL >99th percentile was more sensitive for identifying pathogenic variants (58% vs. 38% for granulocytes). Among asymptomatic POT1 variant carriers, 60% (12 of 20) had immunophenotype-detected B and/or T cell clonality with complete penetrance after age 65 (7 of 7). IGH CDR3 sequencing supported age-dependent pruning of the B cell repertoire, and cytogenetic and next-generation analyses uncovered preclinical clonal lymphoma-associated changes in nearly all POT1 variant carriers older than 60 (9 of 10). Our data identify extended cellular longevity due to long TL as an inherited risk factor for lymphoma explaining its syndromic association with solid tumors, and in some cases, myeloproliferative neoplasms.},
}

@article {pmid41563601,
year = {2026},
author = {Aboalselan, MFK and Mohammed, MQ and Samawi, FT and Gargouri, A},
title = {Exploring the impact of the common (4977 bp) and ATPase mitochondrial DNA deletion on the copy number and telomere length in a sample of infertile Iraqi men.},
journal = {Molecular biology reports},
volume = {53},
number = {1},
pages = {312},
pmid = {41563601},
issn = {1573-4978},
}

@article {pmid41560423,
year = {2026},
author = {Liu, TJ and Wang, XF and Shi, DD and Wang, ZQ and Bi, GQ and Lin, ZL and Huang, HR and Ge, XJ and Li, LF and Yan, HF and Zeng, SH and Ning, ZL},
title = {Haplotype-resolved telomere-to-telomere genome of the jade vine (Strongylodon macrobotrys) provides novel insights into the turquoise flower coloration.},
journal = {Journal of integrative plant biology},
volume = {},
number = {},
pages = {},
doi = {10.1111/jipb.70136},
pmid = {41560423},
issn = {1744-7909},
support = {2022B111123000//Guangdong Science and Technology Program/ ; 2023B1212060046//Guangdong Science and Technology Program/ ; },
abstract = {A haplotype-resolved telomere-to-telomere genome reveals that the bird-shaped turquoise flowers of Strongylodon macrobotrys (jade vine) arise from co-pigmentation between the anthocyanin malvin and the flavonoid saponarin, shaped by genome dynamics and geological event-associated expansions of long terminal repeat retrotransposons.},
}

@article {pmid41559780,
year = {2026},
author = {Wang, Y and Fu, L and Yang, Z and Wang, W and Sun, J and Gu, X},
title = {A telomere-based prognostic model incorporating E2F1, MYCN, VPS72, CFAP53, OR8A1, and TXNRD1 for hepatocellular carcinoma.},
journal = {European journal of medical research},
volume = {},
number = {},
pages = {},
doi = {10.1186/s40001-026-03900-4},
pmid = {41559780},
issn = {2047-783X},
support = {2024HLTJ15//The Third HeLuo Youth Talent Support Project/ ; },
abstract = {BACKGROUND: Hepatocellular carcinoma (HCC) is an aggressive malignancy associated with an unfavorable prognosis. Telomeres and telomere-related genes are central to tumorigenesis, but their systematic integration into prognostic modeling for HCC remains insufficiently explored. This study presents a telomere-based prognostic model aimed at improving risk stratification and informing therapeutic decision-making in HCC.

METHODS: Transcriptomic profiles and clinical data were collected from The Cancer Genome Atlas (369 HCC and 50 normal samples) and Hepatocellular Carcinoma Gene Expression Database (203 cases). A curated panel of 2,093 telomere-related genes was retrieved from TelNet. Hub genes were identified using an integrated strategy combining ssGSEA, WGCNA, and differential expression analysis. A prognostic risk model was established using univariate Cox, LASSO, and multivariate Cox regression analyses, followed by external validation.

RESULTS: We developed a robust telomere-based prognostic model featuring six key genes: E2F1, MYCN, VPS72, CFAP53, OR8A1, and TXNRD1. This six-gene signature stratified patients with HCC into high- and low-risk subgroups with significantly different overall survival (P < 0.05) across training and validation cohorts. Multivariate analyses confirmed the risk score as an independent prognostic factor. Functional analysis revealed significant enrichment of DNA replication and cell cycle pathways in high-risk patients. Immune profiling showed distinct infiltration patterns and elevated immune evasion potential in the high-risk group. Drug sensitivity analyses highlighted potential therapeutic vulnerabilities to specific inhibitors.

CONCLUSION: This study established a telomere-based prognostic model for HCC. This model provides reliable survival prediction, captures key tumor microenvironment features, and yields insights to support personalized therapeutic strategies, offering a valuable tool for clinical decision-making in HCC.},
}

@article {pmid41557636,
year = {2026},
author = {Chen, J and Yang, L and Zhu, X and Wu, J and Lei, M and Wu, Z},
title = {The Ess1 prolyl isomerase represses TERRA transcription and promotes telomere replication in Saccharomyces cerevisiae.},
journal = {Genetics},
volume = {},
number = {},
pages = {},
doi = {10.1093/genetics/iyag017},
pmid = {41557636},
issn = {1943-2631},
abstract = {The conserved Ess1 prolyl isomerase (PIN1 in human) binds the carboxy-terminal domain (CTD) of RNA Pol II, and plays multiple roles in transcription regulation. Consistent with an essential role of the human PIN1 in telomere maintenance, previous screenings have identified the yeast Ess1 as a telomere length maintenance gene. Here, we provide evidence that Ess1 is involved in regulating both telomere transcription and replication. We find that depletion of Ess1 leads to a failure in transcription termination, explaining the essential role of Ess1 in maintaining a low level of telomere repeat containing RNA (TERRA). Furthermore, we show that Ess1 depletion promotes telomere shortening and accelerates senescence in telomerase-deficient cells. Notably, the depletion of Ess1 causes synthetic growth defects and telomere shortening in mre11Δ cells, and compromises rif2Δ-induced telomere elongation. Additionally, Ess1 depletion also accelerates senescence and eliminates type II telomere recombination in rad50Δ tlc1Δ cells. Lastly, Ess1 depletion decreases the accumulation of single-stranded DNA at telomere ends. These results support the model that Ess1 positively regulates both telomerase- and recombination-dependent telomere replication by promoting telomere-end resection. Taken together, this study reveals the yeast Ess1 as a new regulator of telomere transcription and replication via a distinct mechanism from the human PIN1.},
}

@article {pmid41557061,
year = {2026},
author = {Chung, ELT and Kassim, NA and Zheng, ALT and Jesse, FFA and Loh, TC and Dunshea, FR},
title = {Phytogenic effects of Brachiaria decumbens saponin extract on growth performance, immune response, and telomere dynamics in broiler chickens under tropical conditions.},
journal = {Tropical animal health and production},
volume = {58},
number = {2},
pages = {58},
pmid = {41557061},
issn = {1573-7438},
support = {07-01-20-2256FR//Kementerian Sains, Teknologi dan Inovasi/ ; },
}

@article {pmid41556533,
year = {2026},
author = {Vlasova, M and Sun, Y and Chik, HYJ and Dugdale, HL},
title = {Parental Age Effects on Offspring Telomere Length Across Vertebrates: A Meta-Analysis.},
journal = {Molecular ecology},
volume = {35},
number = {2},
pages = {e70215},
doi = {10.1111/mec.70215},
pmid = {41556533},
issn = {1365-294X},
support = {//Rijksuniversiteit Groningen/ ; //Rosalind Franklin Fellowship, University of Groninben/ ; },
mesh = {Humans ; Animals ; *Telomere/genetics ; *Vertebrates/genetics ; Female ; Male ; *Paternal Age ; *Maternal Age ; Phylogeny ; *Telomere Homeostasis ; },
abstract = {Telomeres shorten with advancing age in numerous species, and shorter telomeres are linked to increased mortality risk. While parental age at conception can influence offspring telomere length, the magnitude and direction of this effect differ across studies, species, and parental sexes. To understand how parental age influences offspring telomere length across vertebrates, we conducted a systematic review and meta-analysis to examine the effects of paternal and maternal age at conception on offspring telomere length, incorporating 99 effect sizes from 30 human studies and 49 effect sizes from 12 non-human vertebrate studies. There was a positive overall parental age effect on offspring telomere length within human studies, while no effect was found in non-human vertebrate studies after adjusting for study, estimate, and phylogenetic effects. Considerable heterogeneity was attributed mainly to between-study variance in human studies and to phylogeny in non-human studies. Parental age effect estimates were correlated with the laboratory methods used for measuring telomere length in all studies. In human studies, the interaction between parental and offspring sex affected the parental age effect estimates, and estimates derived from leukocytes were less positive than those from other cells. In non-human vertebrates, parental age effects were less negative when the parents' identity was controlled for in the study. Publication biases suggest overestimation of the parental age effect in human studies. We recommend that future research be conducted on a broader range of taxa, test for within-parent effects, and follow standardised reporting practices to enhance data comparability.},
}

Humans
Animals
*Telomere/genetics
*Vertebrates/genetics
Female
Male
*Paternal Age
*Maternal Age
Phylogeny
*Telomere Homeostasis

@article {pmid41555406,
year = {2026},
author = {van der Vis, JJ and Maus, MTK and de Bie, CI and van der Smagt, JJ and Daenen, LGM and van Oosterhout, MFM and Grutters, JC and van Moorsel, CHM},
title = {Cancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant.},
journal = {Respiratory research},
volume = {},
number = {},
pages = {},
doi = {10.1186/s12931-025-03469-2},
pmid = {41555406},
issn = {1465-993X},
support = {TZO: 10070012010004/ZONMW_/ZonMw/Netherlands ; TZO: 10070012010004/ZONMW_/ZonMw/Netherlands ; TZO: 10070012010004/ZONMW_/ZonMw/Netherlands ; },
}

@article {pmid41549164,
year = {2026},
author = {Tariq, S and Ejaz, S and Liaqat, A and Sarwar, S and Hussain, F and Begum, M and Zafar, F and Hussain, Z and Zia, S},
title = {miR-155-SOCS1-Telomere Length Axis: A Tripartite and Multifaceted Approach To Understanding Rheumatoid Arthritis Pathophysiology.},
journal = {Cell biochemistry and biophysics},
volume = {},
number = {},
pages = {},
pmid = {41549164},
issn = {1559-0283},
}

@article {pmid41548962,
year = {2026},
author = {Courtwright, AM and Mackintosh, JA and Alder, JK and Garcia, CK and Froidure, A and Lowery, E and Hayes, D and Shah, P and Philippot, Q and Borie, R and Greenland, JR and Mannem, H and Snyder, ME and Hellemons, M and Snyder, LD and McDyer, J},
title = {ISHLT Consensus Statement on Short Telomere Syndrome and Lung Transplantation: Authors' Perspective.},
journal = {The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation},
volume = {45},
number = {2},
pages = {163-167},
doi = {10.1016/j.healun.2025.10.027},
pmid = {41548962},
issn = {1557-3117},
}

@article {pmid41548116,
year = {2026},
author = {Cao, Q and Duan, Y},
title = {A paradox in the evolution of HipHop-HOAP and telomere integrity.},
journal = {Cell cycle (Georgetown, Tex.)},
volume = {},
number = {},
pages = {1-4},
doi = {10.1080/15384101.2026.2618667},
pmid = {41548116},
issn = {1551-4005},
}

@article {pmid41547251,
year = {2026},
author = {Qu, Q and Zhang, Y and Zhou, Q and Guo, S and Zhou, Q and Chang, M and He, Z and Liu, L and Wang, Y and Li, J and Cao, H and Zhao, X and Li, Z and Yao, S},
title = {Investigating the mechanism by which telomere dysfunction affects mitochondrial homeostasis in anthracosilicosis using a Terc knockout model.},
journal = {International immunopharmacology},
volume = {172},
number = {},
pages = {116190},
doi = {10.1016/j.intimp.2026.116190},
pmid = {41547251},
issn = {1878-1705},
abstract = {Anthracosilicosis, a type of coal workers' pneumoconiosis, exhibits pathological features of both coal workers' pneumoconiosis and silicosis. Its pathogenesis remains incompletely understood. Growing evidence suggests that telomere dysfunction and mitochondrial homeostasis play critical roles in the development of pulmonary fibrosis. This study aimed to investigate the regulatory role of telomere function in mitochondrial homeostasis and its impact on pulmonary fibrosis in anthracosilicosis, using a telomerase RNA component (Terc) knockout mouse model. Terc knockout mice and an anthracosilicosis mouse model were established to explore the effects of telomere function on mitochondrial homeostasis. Lung tissues were subjected to histopathological analysis via H&E and Masson staining. Deposition of COL1a1 and COL1a3 was detected using immunofluorescence. Telomere length was measured by quantitative fluorescence in situ hybridization (Q-FISH) and qPCR. Subcellular localization of telomerase reverse transcriptase (TERT) to mitochondria was observed via immunofluorescence colocalization. Mitochondrial ultrastructural changes were assessed using transmission electron microscopy (TEM). Oxidative stress levels were evaluated by ELISA and ferric reducing antioxidant power (FRAP) assays. Expression levels of six telomere-binding proteins and mitochondrial homeostasis-related markers were analyzed by Western blot and qPCR. Compared with control and coal-silica dust (CSD)-exposed wild-type mice, Terc[-/-] control and Terc[-/-] CSD-exposed mice exhibited significantly shortened telomeres, severe dysregulation of six telomere-binding proteins, and exacerbated telomere dysfunction. These mice also showed enhanced oxidative damage, abnormal mitochondrial morphology and quantity under TEM, significantly reduced ATP levels, and disrupted mitochondrial dynamic balance. Our findings demonstrate that coal-silica dust exposure aggravates telomere shortening and disrupts mitochondrial homeostasis in Terc[-/-]mice, leading to exacerbated pulmonary fibrosis and promoting the initiation and progression of anthracosilicosis. These results provide valuable insights for developing precise prevention and treatment strategies for pneumoconiosis.},
}

@article {pmid41547191,
year = {2026},
author = {Ji, Q and Liu, Q and Xu, Y and Xu, M and Zhan, Y},
title = {Long-term exposure to residential greenspace, bluespace, traffic, and air pollutants with dementia: A prospective cohort study with exploratory mediation by plasma metabolites and telomere length.},
journal = {Ecotoxicology and environmental safety},
volume = {310},
number = {},
pages = {119750},
doi = {10.1016/j.ecoenv.2026.119750},
pmid = {41547191},
issn = {1090-2414},
abstract = {BACKGROUND: Residential environmental factors-including air pollution, traffic, greenspace, and bluespace-have been increasingly linked to dementia risk, yet the joint impacts and biological pathways remain underexplored. This study aimed to examine the associations between these diverse residential exposures and all-cause and cause-specific dementia, while exploring the mediating roles of plasma metabolites and telomere length.

METHODS: Using the UK Biobank (UKB) cohort, we analyzed 317,498 participants free of dementia at baseline. Exposures were assessed via geographic and model-based data, and outcomes included all-cause dementia (ACD), Alzheimer's disease (AD), vascular dementia (VaD), and other dementia subtypes (O). Cox proportional hazards models were applied to estimate the associations between exposures and dementia outcomes. Separate mediation analyses were conducted to examine the potential mediating roles of plasma metabolites and telomere length.

RESULTS: Pollutant exposures, especially NO₂ and PM10, were consistently associated with higher dementia risk, with age-specific patterns. Greenspace showed inverse associations, notably for ACD and VaD, while traffic proximity elevated VaD risk. Exploratory mediation suggested 49 metabolites for the PM2.5-10-ACD association in participants under 65, with the largest proportions for Omega-3 % (33.29 %) and S-VLDL-TG% (32.99 %).

CONCLUSION: Air pollution, especially particulate matter, was significantly associated with dementia risk, partially mediated by metabolic pathways. These findings underscore the importance of environmental interventions in dementia prevention.},
}

@article {pmid41545405,
year = {2026},
author = {Jia, X and Cao, J and Zhang, S and Feng, K and Li, J and Guo, H and Qu, X and Tao, L and Yang, Y and Wu, A and Zhang, C and Tian, Q and Zhang, GH},
title = {Effect of telomere length and related gene polymorphism in signaling pathway on semen quality.},
journal = {Scientific reports},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41598-025-34054-8},
pmid = {41545405},
issn = {2045-2322},
support = {26B330005//Key Research Projects of Higher Education Institutions in Henan Province/ ; 2023A03J0240//Guangzhou Basic and Applied Basic Research Foundation/ ; 2022A1515012443//Natural Science Foundation of Guangdong Province/ ; HZQSWS-KCCYB-2024031)//Shenzhen Park Project of Hetao Shenzhen-Hong Kong Science and Technology Innovation Cooperation Zone/ ; 82273663//The National Natural Science Foundation of China/ ; },
abstract = {This study investigates sperm telomere length (STL), gene polymorphisms in telomere-related pathway genes, and semen quality, were detected to evaluate their potential as a biomarkers of semen quality. Associationally, it explores between gene polymorphisms and STL, and semen quality. A total of 1,349 male volunteers from the Pu-yang Reproductive Medicine Center were selected as research subjects. Computer-aided sperm analysis analysis was employed to assess semen parameters. Real-time fluorescence quantitative PCR was utilized to measure STL, while polymerase chain reaction was used to detect gene polymorphisms. The correlation between STL, related gene polymorphisms, and semen parameters was subsequently analyzed. Among the 1,349 subjects, the proportions of semen volume, total sperm count, sperm concentration, progressive motility, and total sperm motility meeting the criteria exceeded 80%, whereas the proportion of normal morphology was only 32.46%. The results of the restricted cubic spline (RCS) analysis indicated that STL exhibtied a nonlinear relationship with sperm concentration (P < 0.001) and total sperm count (P = 0.007). After categorizing STL levels into quartiles, the risk of abnormalities in total sprem count (OR = 0.37[0.15,0.94], P = 0.037), sperm concentration (OR = 0.31[0.11,0.83], P = 0.020), progressive motility (OR = 0.27[0.12,0.61)], P = 0.002), and total vitality percentage (OR = 0.19[0.07,0.51], P = 0.001) was lower in the third quartile when compared to the first quartile. We explored the relationship between genetic variation in three key telomere pathway genes (POT1, TERF1, and TERT), STL, and semen parameters. STL levels were significantly higher in individuals carrying the POT1 rs1034794 mutant allele than in type individuals (β = 6.17, P = 0.005). We observed that the POT1 rs1034794 and rs10250202 variants were negatively correlated with total sperm count (β=-64.47), progressive motility (β1=-9.76; β2=-6.99), and total vitality percentage (β1=-11.80; β2=-7.04). The TERT rs2735940 variant was negatively correlated with Wobble (WOB) and Linearity (LIN). There is a non-linear relationship between STL and sperm concentration as well as total sperm count. STL may serve as potentially reliable biomarker of semen quality. Furthermore, single nucleotide polymorphisms (SNPs) in telomere-associated pathway genes (POT1, TERT) were significantly associated with sperm parameters and STL. This suggests a novel hypothesis thought polymorphisms in telomere pathway genes may indirectly regulate semen parameters by affecting STL.},
}

@article {pmid41544829,
year = {2026},
author = {Sun, C and Qiu, P and Huang, S and Luo, Q and Ma, Q and Hu, P and Chen, F and Wu, H and Chen, C},
title = {Telomere length and metabolic dysfunction-associated steatotic liver disease risk and progression: A systematic review and meta-analysis.},
journal = {Experimental gerontology},
volume = {},
number = {},
pages = {113036},
doi = {10.1016/j.exger.2026.113036},
pmid = {41544829},
issn = {1873-6815},
abstract = {AIMS: This study aims to systematically review existing literature to evaluate the association between telomere length (TL) and the risk of MASLD and its progression outcomes.

MATERIALS AND METHODS: PubMed, EMBASE, and Web of Science were searched for relevant studies up to May 27, 2025. Included studies were systematically reviewed to summarize the findings, with complementary quantitative analyses conducted using a random-effects model. This study was conducted in strict accordance with the PRISMA 2020 statement and was registered on the PROSPERO platform (CRD420251042478).

RESULTS: Ultimately, 12 observational studies met the inclusion criteria. A limited number of high-quality cohort studies have consistently observed an association between shorter leukocyte TL (LTL) and an increased risk of MASLD. Evidence from cross-sectional studies appears more inconsistent and imprecise. Notably, cross-sectional analysis revealed a paradoxical increase in LTL among T2DM patients with MASLD, possibly reflecting a compensatory response to early-stage metabolic stress and insulin resistance; however, longitudinal evidence clarified that accelerated LTL attrition, rather than baseline length, serves as the critical driver and predictor of MASLD incidence. Despite consistent evidence indicating that shorter LTL may serve as a biomarker for severe MASLD progression, the interpretation of these findings is hampered by methodological limitations in current studies.

CONCLUSION: Current evidence suggests that shorter TL is a potential marker for MASLD risk, particularly supported by high-quality longitudinal data. While further quantitative analysis identified significant associations, the robustness of these results is compromised by the limited number of high-quality studies, alongside substantial heterogeneity and publication bias. Shorter TL may be associated with the adverse progression of MASLD. Future high-quality longitudinal studies are warranted to strengthen the body of evidence and establish their clinical utility.},
}

@article {pmid41544677,
year = {2026},
author = {Zhai, T and Toprani, SM and Dillon-Martin, M and Doyle, PF and Kang, H and Novack, C and Liang, L and Christiani, DC and Kozono, DE and Nagel, ZD},
title = {Telomere Length Dynamics As a Biomarker of Individual Radiation Sensitivity and Pneumonitis in Lung Cancer Patients Receiving Thoracic Radiotherapy.},
journal = {International journal of radiation oncology, biology, physics},
volume = {},
number = {},
pages = {},
doi = {10.1016/j.ijrobp.2025.12.060},
pmid = {41544677},
issn = {1879-355X},
abstract = {BACKGROUND: Telomere shortening is a biomarker for genome instability and aging, and the vulnerability of telomeric DNA to oxidative damage suggests its potential role in mediating radiotherapy (RT) side effects. This study evaluates telomere length (TL) as a biomarker for clinical radiosensitivity and adverse outcomes in thoracic RT-treated patients.

METHODS: Cancer patients receiving thoracic RT (2019-2022) were prospectively enrolled at [Anonymized for Review]. Peripheral blood mononuclear cells (PBMCs) were collected pre-RT and up to 12 months post-RT. TL was measured using quantitative PCR, and multi-pathway DNA repair capacity (DRC) was simultaneously assessed by fluorescence multiplex host cell reactivation (FM-HCR) assays. RT outcomes included patient-reported quality of life and radiation pneumonitis. Linear mixed-effects models were used to analyze TL dynamics; risk prediction models for RT outcomes were evaluated using area under the curve.

RESULTS: Pre-RT TL decreased with age (0.44% lower per year, 95% CI: 0.12%, 0.77%) and advanced cancer stage (6.87% lower per step increase of stage, 95% CI: 3.45%, 10.16%). Radical RT was associated with telomere shortening (3.7% lower, 95% CI: 0.27%, 7.07%) in PBMCs, detectable up to 6 months post-RT. Pre-RT TL strongly predicted post-RT changes, and TL dynamics outperformed static measures in predicting symptom burden and radiation pneumonitis. Positive associations were observed between TL and DRC against oxidative lesions, with A:8oxoG repair capacity mediating 12.8% of RT-induced TL shortening.

CONCLUSIONS: Lymphocyte TL can reflect individual radiosensitivity and interact with oxidative damage repair. Longitudinal assessment of TL dynamics provides additional predictive value for adverse RT outcomes compared to static measures. Further studies are needed to fully determine the clinical utility of TL.},
}

@article {pmid41545084,
year = {2026},
author = {Garrido, C and Gómez-Muñoz, C and Kornobis, E and Agier, N and Ilioaia, O and Fischer, G and Xu, Z},
title = {Natural diversity of telomere length distributions across 100 Saccharomyces cerevisiae strains.},
journal = {Genome research},
volume = {},
number = {},
pages = {},
doi = {10.1101/gr.281132.125},
pmid = {41545084},
issn = {1549-5469},
abstract = {Telomeres gradually shorten at each cell division and telomerase counteracts this shortening by elongating telomere sequences. This dynamic balance between elongation and shortening results in a steady-state telomere length (TL) distribution. We develop a method for detecting telomeric sequences in Saccharomyces cerevisiae genomes from raw Oxford Nanopore Technologies (ONT) sequencing reads, providing a comprehensive view of TL distributions both genome-wide and at individual chromosome extremities. We analyze the TL distribution in 100 S. cerevisiae strains, representing the genetic and ecological diversity of the species. Our analysis reveals a large diversity in TL distributions within the species, largely driven by interextremity differences, ploidy level, and subtelomere structure. Polyploid strains display significantly longer telomeres than diploid and haploid strains, and experiments with artificially generated polyploids in two independent genetic backgrounds confirm that higher ploidy levels lead to telomere elongation. Furthermore, we find that the subtelomeric Y' element exerts two distinct and opposing effects: (i) the presence of Y' elements at a chromosome extremity is associated with shorter telomeres in cis, but (ii) the overall Y' element content in a strain correlates with longer telomeres. Finally, we show that the length of the shortest telomeres remains relatively constant across strains, suggesting a selective constraint at the species level. This study reveals the diversity of TL in S. cerevisiae and highlights key factors shaping TL distributions both genome-wide and at individual chromosome extremities.},
}

@article {pmid41540068,
year = {2026},
author = {Li, J and Zhao, J and Zheng, W and Ma, Y and Qiu, M and Li, W and Wang, Y},
title = {A telomere-to-telomere genome assembly for Cyperus difformis.},
journal = {Scientific data},
volume = {},
number = {},
pages = {},
doi = {10.1038/s41597-026-06582-z},
pmid = {41540068},
issn = {2052-4463},
support = {2021GXNSFDA220007//Natural Science Foundation of Guangxi Zhuang Autonomous Region/ ; 2024GXNSFAA010013//Natural Science Foundation of Guangxi Zhuang Autonomous Region/ ; },
abstract = {Cyperus difformis is a globally problematic weed in rice fields, posing a significant threat to rice yield. While chemical herbicides are commonly used for its control, the species often escapes management due to its rapid evolution of resistance to widely used herbicides. To better understand the mechanisms underlying herbicide resistance, insights into the genetics and genomics of C. difformis are essential. In this study, we present a telomere-to-telomere genome assembly of C. difformis, generated by combining PacBio HiFi, Oxford Nanopore Technologies (ONT), MGI short reads and high-throughput chromatin conformation capture (Hi-C) technologies. The assembled genome spans 226 Mb with a scaffold N50 of 13.08 Mb. Utilizing Hi-C interaction data, 97.24% of the contigs were anchored to 18 chromosomes, with 35 telomeres successfully defined. Further analysis identified 75.73 Mb of repetitive sequences and 21,069 protein-coding genes, of which 91.8% (19,347 genes) were functionally annotated. This high-quality genome provides a valuable resource for studies in population genetics, phylogeny, comparative genomics, adaptive evolution, and functional genomics of C. difformis.},
}

@article {pmid41535478,
year = {2026},
author = {Salsi, V and Losi, F and Pini, S and Chiara, M and Tupler, R},
title = {Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats.},
journal = {European journal of human genetics : EJHG},
volume = {},
number = {},
pages = {},
pmid = {41535478},
issn = {1476-5438},
support = {PE_00000019 HEAL ITALIA//Ministero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research)/ ; },
abstract = {Facioscapulohumeral muscular dystrophy (FSHD) is genetically associated with reduction of the D4Z4 macrosatellite array at 4q35 on a permissive 4qA haplotype, a configuration that enables the stable expression of the DUX4 transcription factor. Current diagnostic and mechanistic models, however, rely heavily on the incomplete GRCh38/hg38 reference and assume that D4Z4 repeats are predominantly confined to 4q35 and 10q26 loci. Here we present a systematic re-analysis of the configuration of D4Z4-like repeats in the human genome using the Telomere-to-Telomere human genome assembly (T2T-CHM13 v2.0/hs1) and complementary experimental validation. Using the terminal 4q35 repeat as a query, we annotated the full repertoire of D4Z4-like loci across the genome and characterized their structural completeness, flanking sequences, and coding potential. This survey uncovered clusters and isolated monomers on at least ten additional chromosomes, several of which harbor intact DUX4 open reading frames or polyadenylation signals. In silico PCR and assays on monochromosomal hybrid cell lines demonstrate that primer sets widely employed for DUX4 or DBE-T detection amplify multiple loci beyond 4q/10q. Together, these findings demonstrate that many signals historically attributed to the pathogenic 4q locus may in fact arise from paralogous arrays. Our study establishes the necessity of locus-resolved, repeat-aware approaches, combining long-read sequencing, methylation-aware profiling, and isoform-resolved transcriptomics, for accurate diagnostics and to define the molecular basis of FSHD.},
}

@article {pmid41534275,
year = {2026},
author = {Vanbrabant, K and Rasking, L and Alfano, R and Ameloot, M and Craps, L and Martens, DS and Vanmierlo, T and Vangeneugden, M and Nawrot, TS and Schins, RPF and Cassee, FR and Plusquin, M},
title = {Molecular basis for the early life sensitization of the brain to ultrafine carbonaceous particles: a study of the brain proteome, telomeres, and epigenetic modelling.},
journal = {Environment international},
volume = {207},
number = {},
pages = {110058},
doi = {10.1016/j.envint.2026.110058},
pmid = {41534275},
issn = {1873-6750},
abstract = {Air pollution has been implicated in various adverse health effects, including neurodevelopmental and neurodegenerative impairments. However, the long-term impact of early-life ultrafine particle (UFP) exposure on the brain remains poorly understood. Using a sequential exposure mouse model, we investigated how early-life ultrafine carbonaceous particles (UFP[C]) exposure programs neurobehavioural and molecular vulnerability upon adult re-exposure. Wild-type C57BL/6J mice were exposed to either HEPA-filtered air or UFP[C] during the prenatal (gestational days 8-9 and 16-17) and/or postnatal periods (postnatal days 4-7 and 10-13), followed by a 4-day re-exposure in adulthood (postnatal days 142-145). Behavioural assessments revealed hippocampus-dependent spatial memory deficits and anxiolytic-like behaviour following cumulative exposure. Brain proteomic analysis identified reduced protein levels of key modulators of synaptic signalling and neurovascular homeostasis (Erbb4 and Ddah1), accompanied by gene-specific promoter methylation changes and shortened telomere length, indicating persistent epigenetic reprogramming and accelerated cellular aging. We validated the epigenetic sensitivity of ERBB4 to prenatal air pollution in human cord blood from the ENVIRONAGE birth cohort. The integrative design, encompassing behavioural phenotyping and molecular profiling, offers a comprehensive systems-level perspective on the neurobiological effects of UFP[C]. Our findings suggest that developmental UFP[C] exposure induces increased susceptibility to re-exposure on behavioural, epigenetic, and proteomic outcomes. This work provides evidence for UFP as a potentially critical environmental determinant of brain health throughout life.},
}

@article {pmid41531665,
year = {2026},
author = {Massaccesi, E and Arcuri, L and Cavalca, G and Beier, F and Vankann, L and Lupia, M and Cangelosi, D and Grossi, A and Lanciotti, M and Pierri, F and Fioredda, F and Miano, M and Dell'Orso, G and Giarratana, MC and Guardo, D and Bagnasco, F and Pestarino, S and Binelli, M and Tometten, M and Meyer, R and Frenzel, F and Coviello, D and Mariani, E and Palmisani, E and Kainat, S and Ceccherini, I and Uva, P and Brümmendorf, TH and Dufour, C},
title = {Application of machine learning in the diagnostic work-up of telomere biology disorders.},
journal = {HemaSphere},
volume = {10},
number = {1},
pages = {e70272},
doi = {10.1002/hem3.70272},
pmid = {41531665},
issn = {2572-9241},
abstract = {We applied supervised and unsupervised machine learning (ML) analyses to a cohort of 140 patients referred to the Hematology Unit of the G. Gaslini Institute from 1989 to 2023 for persistent cytopenia and/or features suggestive of telomere biology disorders (TBDs). Patients were labeled as "TBD" (n = 20, established molecular diagnosis of TBD), "other diagnosis" (OD, n = 27, established molecular diagnosis of congenital disease including marrow failures), and "undefined diagnosis" (UD, n = 93, no established molecular diagnosis). After training a random forest model on 47 patients with established molecular diagnosis (20 TBD and 27 OD), supervised analysis was applied to the UD group and predicted 16/93 patients as having potential TBD and 77/93 subjects with potential OD, accounting for 17.2% and 82.7% of possibly reallocated diagnoses, respectively. The unsupervised approach applied to the whole cohort (n = 140) identified 4 distinct clusters to be significantly associated (P = 0.000001) with 47 molecular diagnoses, with TBD patients prevailing in Clusters 1 and 2 and OD patients in Clusters 3 and 4. Telomere length (TL) and mucocutaneous abnormalities were the most relevant drivers in discriminating between the TBD and OD groups in supervised and unsupervised analyses; they prevailed in Clusters 1 and 2. Interestingly, both analyses yielded similar results in the UD group, where all 16/93 patients without molecular diagnosis predicted to have TBD in the supervised approach were placed in "TBD clusters" 1-2 of the unsupervised analysis. This model might correctly reallocate a remarkable proportion of undefined or previously misclassified cases, thus potentially leading to substantially improved diagnostic work-up of rare and challenging diseases like TBD.},
}

@article {pmid41529501,
year = {2026},
author = {Del Prete, C and Iannuzzi, A and Longobardi, V and Pasolini, MP and Pistucci, R and Calabria, A and Gasparrini, B and Cocchia, N},
title = {Telomere lengths in blood and sperm as biomarkers of reproductive aging and semen quality in dogs.},
journal = {Theriogenology},
volume = {254},
number = {},
pages = {117827},
doi = {10.1016/j.theriogenology.2026.117827},
pmid = {41529501},
issn = {1879-3231},
abstract = {To assess the potential utility of leukocytes and spermatozoa telomere length (LTL and STL) as reproductive biomarkers, this study measured both LTL and STL and investigated their possible correlations with oxidative status and semen quality parameters in healthy breeding male dogs. Twenty-two ejaculates and blood samples were collected from dogs of various breeds. Semen was evaluated for volume, concentration, sperm motility, and kinetic parameters using a Sperm Class Analyzer. LTL and STL were quantified using Quantitative PCR (qPCR) and expressed as the relative ratio of telomere repeat copy number (T) to a single-copy gene (S), T/S ratio. Serum oxidative stress markers were assessed using d-ROMs and Biological Antioxidant Potential (BAP) tests. Correlations between STL and LTL, as well as their association with age, semen parameters and oxidative stress levels, were evaluated using Spearman analysis. LTL and STL were 0.63 ± 0.25 and 0.85 ± 0.31 and showed a strong positive correlation (P < 0.001; rs = 0.70). Both LTL and STL were also negatively correlated with age (P < 0.05 and rs = -0.50; P < 0.001 and rs = -0.68). The cut-off age for the difference in STL and LTL was identified at 6 and 7.5 years, respectively. STL was also positively correlated with semen volume (P < 0.05; rs = 0.63) and concentration (P < 0.05; rs = 0.41) and negatively correlated with semen chromatin decondensation (P < 0.01; rs = -0.71); while the LTL showed a positive correlation with sperm concentration (P < 0.05; rs = 0.53). No correlations with oxidative markers were found. These findings support the potential use of TL as a biomarker for reproductive aging and semen quality in dogs.},
}

@article {pmid41529279,
year = {2025},
author = {Guillen-Parra, M and Velando, A and Montoya, B and Torres, R},
title = {Short-Term Telomere Elongation in Breeding Adults of a Long-Lived Seabird.},
journal = {Ecological and evolutionary physiology},
volume = {98},
number = {6},
pages = {412-420},
doi = {10.1086/738557},
pmid = {41529279},
issn = {2993-7973},
mesh = {Animals ; Female ; *Telomere/physiology ; *Reproduction/physiology ; Male ; *Telomere Homeostasis ; Longevity ; },
abstract = {AbstractTelomere dynamics have been linked to differences in reproductive effort across vertebrates. In the Cocos booby (Sula brewsteri), we predicted that parents' telomeres would shorten according to their breeding effort during incubation. During mid-incubation, we blood-sampled 24 adults to estimate telomere length by a quantitative polymerase chain reaction and recorded their body mass, clutch size, and hatching success. At the end of incubation, a second body mass measurement and blood sample were collected. Unexpectedly, parents' telomere length increased throughout incubation. Individuals with two-egg clutches, higher hatching success, and increased body mass exhibited greater telomere elongation. Thus, telomere dynamics did not reflect costs of reproductive effort. The results suggest that telomeres elongate, probably depending on individual quality differences, as proposed by the excess resources elongation hypothesis. Future studies should investigate whether the observed short-term telomere elongation is widespread in breeding animals, as it may be part of a potential mechanism for resilience to predictable stressful events like reproduction.},
}

Animals
Female
*Telomere/physiology
*Reproduction/physiology
Male
*Telomere Homeostasis
Longevity

@article {pmid41528027,
year = {2026},
author = {Chaves, A and Faral, A and Díaz, L and Albero, A and Ruvinsky, S and Masegosa, ME and Milanesio, B and Galli, M and Hepner, M and Sciuccati, G and Chan, D and Pepe, C},
title = {Age-specific telomere length percentiles in the Argentine population: a diagnostic tool for telomere biology disorders.},
journal = {Archivos argentinos de pediatria},
volume = {},
number = {},
pages = {e202510818},
doi = {10.5546/aap.2025-10818.eng},
pmid = {41528027},
issn = {1668-3501},
abstract = {Introduction. Telomere length (TL) is a biomarker of cellular aging. Its excessive shortening is associated with telomere biology disorders (TBD), which can manifest from childhood with bone marrow failure and a predisposition to cancer. The clinical interpretation of TL requires age-adjusted reference curves specific to each population. In Argentina, there is no curve of its own. The objective of the study was to construct an age-adjusted telomere length reference curve representative of the Argentine population. Methods. Using the Monochrome Multiplex Quantitative PCR (MMQPCR) technique, TL was estimated in 159 samples from healthy individuals (0-50 years old). The percentile curve was adjusted using a generalized linear model with a gamma distribution. Validation was performed using 19 controls (normal and pathological) that had previously been evaluated by MMQPCR or Southern blot in international laboratories. Results. The curve allowed us to estimate age-adjusted TL percentiles (P1-P95). All samples with a clinical or molecular diagnosis of TBD were below P10, and cases with severe phenotypes were below P1. Normal controls were above P10. The technique demonstrated good reproducibility and adequate model adjustment. Conclusions. The first age-adjusted TL reference curve was generated in the Argentine population. It is a valuable tool for local laboratories that use the same methodology, guiding the diagnosis of TBD. Its integration with next-generation sequencing techniques increases diagnostic sensitivity and allows for a more accurate approach to these syndromes.},
}

@article {pmid41520142,
year = {2026},
author = {Brown, A and Strickland, LM and Erman, EN and Pirozzi, CJ and Low, JT and Diplas, BH and Gibson, E and Shobande, M and Khambati, T and Krylova, M and Liu, H and McLendon, RE and Reitman, ZJ and Keir, ST and Zou, L and Ashley, DM and Waitkus, MS},
title = {SMARCAL1 is a targetable synthetic lethal therapeutic vulnerability in ATRX-deficient gliomas that use Alternative Lengthening of Telomeres.},
journal = {Neuro-oncology},
volume = {},
number = {},
pages = {},
doi = {10.1093/neuonc/noaf300},
pmid = {41520142},
issn = {1523-5866},
abstract = {BACKGROUND: Approximately 10% of cancers achieve replicative immortality through a telomerase-independent mechanism of telomere maintenance, termed Alternative Lengthening of Telomeres (ALT). ALT is particularly prevalent in certain subtypes of malignant gliomas, such as IDH-mutant astrocytoma and pediatric glioblastoma, and frequently co-occurs with ATRX inactivating mutations. Although ALT is an adaptive mechanism through which cancer cells achieve proliferative immortality, the elevated levels of replication stress observed in ALT tumors constitute a potential therapeutic vulnerability.

METHODS: Leveraging CRISPR/Cas9 screening data from the Cancer Dependency Mapping Project, coupled with patient-derived cell lines and xenografts, we identified SMARCAL1 as a novel synthetic lethal vulnerability in ATRX-deficient glioma models that engage ALT. Using complementary molecular assays for DNA damage, telomere maintenance, and telomeric replication stress, we define the mechanisms underlying cytotoxicity induced by SMARCAL1 depletion in ALT-positive glioma cells.

RESULTS: Our data demonstrate the annealing helicase SMARCAL1 is a highly specific synthetical lethal vulnerability in cancers that use ALT. SMARCAL1 localizes to ALT-associated PML bodies in ALT-positive glioma cell lines, including IDH-mutant astrocytomas. SMARCAL1 depletion, via doxycycline-induced RNAi, led to a hyperactivation of the ALT phenotype, high levels of DNA double-strand breaks in G2 phase, and cell death via mitotic catastrophe. In mice bearing intracranial xenografts derived from high-grade IDH-mutant astrocytoma, inducible SMARCAL1 depletion prolonged animal survival.

CONCLUSIONS: Our findings demonstrate that the molecular processes orchestrating ALT-mediated telomere maintenance constitute a targetable synthetic lethal vulnerability that can be exploited by SMARCAL1 inhibition, thus supporting the future development of small molecule inhibitors of SMARCAL1 as anti-cancer therapeutics.},
}

@article {pmid41516073,
year = {2025},
author = {Torres-Oteros, D and Nicola-Llorente, M and Sanz-Lamora, H and Pérez-Martí, A and Marrero, PF and Canudas, S and Haro, D and Relat, J},
title = {Hepatic FGF21 Deletion Improves Glucose Metabolism, Alters Lipogenic and Chrna4 Gene Expression, and Enhances Telomere Maintenance in Aged Female Mice.},
journal = {International journal of molecular sciences},
volume = {27},
number = {1},
pages = {},
doi = {10.3390/ijms27010194},
pmid = {41516073},
issn = {1422-0067},
support = {AGL2017-82417-R//Ministerio de Ciencia, Innovación y Universidades/ ; 2021SGR 00861//Generalitat de Catalunya/ ; Crowdfunding Precipita.es//Fundación Española para la Ciencia y la Tecnología/ ; PREDOCS-UB 2020//Universitat de Barcelona/ ; FPU19/02601//Ministerio de Ciencia, Innovación y Universidades/ ; Ayuda María Zambrano//Ministerio de Ciencia, Innovación y Universidades/ ; },
mesh = {Animals ; *Fibroblast Growth Factors/genetics/metabolism ; Female ; *Liver/metabolism ; Mice ; *Lipogenesis/genetics ; Mice, Knockout ; *Glucose/metabolism ; *Aging/metabolism/genetics ; *Receptors, Nicotinic/genetics/metabolism ; *Telomere Homeostasis/genetics ; *Telomere/metabolism/genetics ; Gene Expression Regulation ; Mice, Inbred C57BL ; },
abstract = {Fibroblast growth factor 21 (FGF21) is a key hormone for metabolic homeostasis under conditions such as obesity, aging and diabetes. While extensively studied in males, its role in female physiology remains poorly defined. This study evaluated the effects of hepatic FGF21 deletion in 12-month-old female mice using a liver-specific FGF21 knockout (FKO) model. FKO females exhibited reduced body weight and improved glucose tolerance, with no changes in circulating FGF21 levels. In the liver, RT-qPCR analysis showed that the expression of genes involved in de novo lipogenesis, including Srebp1c, Fasn, and Scd1, was downregulated, whereas markers of fatty acid uptake (Cd36) and β-oxidation (Cpt1a) were upregulated without alterations in hepatic triglyceride content and lower levels of serum adiponectin. Remarkably, telomere length in both liver and adipose tissue was preserved, indicating improved cellular aging. Hepatic transcriptomic analysis revealed a global downregulation of genes linked to cytoskeletal organization, immune processes and fibrosis. Among these, Chrna4, a hepatocyte-specific nicotinic acetylcholine receptor subunit implicated in protection against metabolic-associated steatohepatitis (MASH), was significantly reduced. These findings suggest that hepatic FGF21 deficiency in aged female mice promotes metabolic health by limiting pro-inflammatory and fibrotic pathways and preserving telomere integrity, with Chrna4 emerging as a potential mediator.},
}

Animals
*Fibroblast Growth Factors/genetics/metabolism
Female
*Liver/metabolism
Mice
*Lipogenesis/genetics
Mice, Knockout
*Glucose/metabolism
*Aging/metabolism/genetics
*Receptors, Nicotinic/genetics/metabolism
*Telomere Homeostasis/genetics
*Telomere/metabolism/genetics
Gene Expression Regulation
Mice, Inbred C57BL