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

Sci Rep. 2018 Aug 8;8(1):11887. doi: 10.1038/s41598-018-30255-6.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aging / genetics*
  • DNA Damage / genetics
  • DNA, Mitochondrial / genetics*
  • Dementia / genetics
  • Dementia / mortality*
  • Female
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / mortality
  • Humans
  • Leukocytes / pathology
  • Male
  • Mitochondria / genetics*
  • Mutation / genetics*
  • Phenotype
  • Stroke / genetics
  • Stroke / mortality*

Substances

  • DNA, Mitochondrial