Deleterious mitochondrial heteroplasmies exhibit increased longitudinal change in variant allele fraction.

Lieke M Kuiper, Wen Shi, Joost A M Verlouw, Yun Soo Hong, Pascal Arp, Daniela Puiu, Linda Broer, Jiaqi Xie, Charles Newcomb, Stephen S Rich, Kent D Taylor, Jerome I Rotter, Joel S Bader, Eliseo Guallar, Joyce B J van Meurs, Dan E Arking

Genetic Laboratory, Department of Internal Medicine, Erasmus MC, 3015 GD Rotterdam, the Netherlands.Genetic Laboratory, Department of Internal Medicine, Erasmus MC, 3015 GD Rotterdam, the Netherlands. · pubmed

Paper

Abstract

A common feature of human aging is the acquisition of somatic mutations, and mitochondria are particularly prone to mutation, leading to a state of mitochondrial DNA heteroplasmy. Cross-sectional studies have demonstrated that detection of heteroplasmy increases with participant age, a phenomenon that has been attributed to genetic drift. In this large-scale longitudinal study, we measured heteroplasmy in two prospective cohorts (combined

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Research summary

The paper claims that deleterious mitochondrial heteroplasmies show increased longitudinal change in variant allele fraction. This research is relevant as it investigates the accumulation of mitochondrial mutations, which are implicated in the aging process and could provide insights into the biological mechanisms underlying aging and age-related diseases.

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