Mitochondrial DNA mutations in neurodegeneration

Biochim Biophys Acta. 2015 Nov;1847(11):1401-11. doi: 10.1016/j.bbabio.2015.05.015. Epub 2015 May 23.


Mitochondrial dysfunction is observed in both the aging brain, and as a core feature of several neurodegenerative diseases. A central mechanism mediating this dysfunction is acquired molecular damage to mitochondrial DNA (mtDNA). In addition, inherited stable mtDNA variation (mitochondrial haplogroups), and inherited low level variants (heteroplasmy) have also been associated with the development of neurodegenerative disease and premature neural aging respectively. Herein we review the evidence for both inherited and acquired mtDNA mutations contributing to neural aging and neurodegenerative disease. This article is part of a Special Issue entitled: Mitochondrial Dysfunction in Aging.

Keywords: Aging; Alzheimer disease; DNA; Lewy body disease; Mitochondrial; Parkinson disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenosine Triphosphate / biosynthesis
  • Alzheimer Disease / genetics
  • Animals
  • DNA, Mitochondrial / genetics*
  • Humans
  • Lewy Body Disease / genetics
  • Mutation*
  • Neurodegenerative Diseases / genetics*
  • Stroke / genetics


  • DNA, Mitochondrial
  • Adenosine Triphosphate