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Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality.

  • Author(s): Tranah, Gregory J
  • Katzman, Shana M
  • Lauterjung, Kevin
  • Yaffe, Kristine
  • Manini, Todd M
  • Kritchevsky, Stephen
  • Newman, Anne B
  • Harris, Tamara B
  • Cummings, Steven R
  • et al.

Mitochondria contain many copies of a circular DNA molecule (mtDNA), which has been observed as a mixture of normal and mutated states known as heteroplasmy. Elevated heteroplasmy at a single mtDNA site, m.3243A > G, leads to neurologic, sensory, movement, metabolic, and cardiopulmonary impairments. We measured leukocyte mtDNA m.3243A > G heteroplasmy in 789 elderly men and women from the bi-racial, population-based Health, Aging, and Body Composition Study to identify associations with age-related functioning and mortality. Mutation burden for the m.3243A > G ranged from 0-19% and elevated heteroplasmy was associated with reduced strength, cognitive, metabolic, and cardiovascular functioning. Risk of all-cause, dementia and stroke mortality was significantly elevated for participants in the highest tertiles of m.3243A > G heteroplasmy. These results indicate that the accumulation of a rare genetic disease mutation, m.3243A > G, manifests as several aging outcomes and that some diseases of aging may be attributed to the accumulation of mtDNA damage.

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