Longitudinal change in mitochondrial heteroplasmy exhibits positive selection for deleterious variants
Lieke M Kuiper, Wen Shi, Joost 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 Güallar, Joyce B. J. van Meurs, Dan E. Arking
This study shows that deleterious mitochondrial DNA mutations increase over time and are associated with higher mortality risk, suggesting positive selection rather than genetic drift.
iScience · May 6, 2025Peer-reviewedGenetic & Genomic Medicine