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RESEARCH PAPER / 2025-09-02

Epigenetic age acceleration in Turner and Klinefelter syndrome: Correlations with clinical aging markers.

Emma B Hasselholm, Jesper Just, Simon Chang, Anne Skakkebæk, Claus Højbjerg Gravholt

Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. [email protected] of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. [email protected]. · pubmed

Abstract

The sex chromosome aneuploidies Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) are associated with aging-related comorbidities, reduced life expectancy and genome-wide DNA methylation changes. This indicates that biological aging, reflecting physiological function rather than chronological age, is increased in both syndromes. To investigate whether DNA methylation patterns linked to physiological decline could contribute to the comorbidity patterns and reduced lifespan in TS and KS, we applied so-called epigenetic clocks to DNA methylation data from cohorts of TS (n = 57) compared to female controls (n = 33) and KS (n = 65) compared to male controls (n = 63). Additionally, we evaluated correlations between epigenetic age and clinical variables, aiming to identify clinical aging markers in TS and KS.

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Research summary

The paper investigates the relationship between epigenetic age acceleration and clinical aging markers in Turner and Klinefelter syndromes. This research is relevant as it explores biological aging mechanisms and their implications for lifespan and health in specific genetic conditions, contributing to the understanding of aging processes.

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