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DNA methylation variations and epigenetic aging in telomere biology disorders
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Pathology.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Pathology.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Pathology.
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2023 (English)In: Scientific Reports, E-ISSN 2045-2322, Vol. 13, no 1, article id 7955Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Springer Nature, 2023. Vol. 13, no 1, article id 7955
National Category
Microbiology in the medical area
Identifiers
URN: urn:nbn:se:umu:diva-209273DOI: 10.1038/s41598-023-34922-1ISI: 000992335400030PubMedID: 37193737Scopus ID: 2-s2.0-85159474361OAI: oai:DiVA.org:umu-209273DiVA, id: diva2:1764406
Funder
The Kempe FoundationsCancerforskningsfonden i NorrlandUmeå UniversityRegion VästerbottenAvailable from: 2023-06-08 Created: 2023-06-08 Last updated: 2023-09-05Bibliographically approved

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Carlund, OliviaNorberg, AnnaOsterman, PiaLandfors, MattiasDegerman, SofieHultdin, Magnus

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