ArticleScientific reports2023
DNA methylation variations and epigenetic aging in telomere biology disorders.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Angiotensin II and TGFB1 Induce Global DNA Demethylation and Telomere Elongation in Bovine Embryos.Animals : an open access journal from MDPI · 2026Article
- Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines · 2026Review
- Assessing the Role of Chronic Stress in Aging Among Individuals Experiencing Homelessness: A Pilot Study.Health science reports · 2026Article
- Whole genome sequencing reveals telomere associated genomic differences between healthy and unhealthy aging in a Korean population.Biogerontology · 2025Article
- Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.Scientific reports · 2025Article
- Integrative effects of Telomere Length, Epigenetic Age, and Mitochondrial DNA abundance in Alzheimer's Disease.medRxiv : the preprint server for health sciences · 2025Article
- Causality of Aging Hallmarks.Aging and disease · 2025Review
- Accelerated biological ageing in familial pulmonary fibrosis.The European respiratory journal · 2025Article
- Semimethylation is a feature of diffuse large B-cell lymphoma, and subgroups with poor prognosis are characterized by global hypomethylation and short telomere length.Clinical epigenetics · 2024Article
- Racial disparity in uterine leiomyoma: new insights of genetic and environmental burden in myometrial cells.Molecular human reproduction · 2024Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Telomere Biology Disorders (TBDs) are characterized by mutations in telomere-related genes leading to short telomeres and premature aging but with no strict correlation between telomere length and disease severity. Epigenetic alterations are also markers of aging and we aimed to evaluate whether DNA methylation (DNAm) could be part of the pathogenesis of TBDs. In blood from 35 TBD cases, genome-wide DNAm were analyzed and the cases were grouped based on relative telomere length (RTL): short (S), with RTL close to normal controls, and extremely short (ES). TBD cases had increased epigenetic age and DNAm alterations were most prominent in the ES-RTL group. Thus, the differentially methylated (DM) CpG sites could be markers of short telomeres but could also be one of the mechanisms contributing to disease phenotype since DNAm alterations were observed in symptomatic, but not asymptomatic, cases with S-RTL. Furthermore, two or more DM-CpGs were identified in four genes previously linked to TBD or telomere length (PRDM8, SMC4, VARS, and WNT6) and in three genes that were novel in telomere biology (MAS1L, NAV2, and TM4FS1). The DM-CpGs in these genes could be markers of aging in hematological cells, but they could also be of relevance for the progression of TBD.
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