Mitochondrial DNA mutations in disease, aging, and neurodegeneration

Ann N Y Acad Sci. 2008 Dec:1147:21-9. doi: 10.1196/annals.1427.016.


Patients with disorders from mutations in the mitochondrial genome have variable phenotypes, but common to many of these disorders are underlying changes in postmitotic cells, particularly neurons and muscle fibers. The mitochondrial dysfunction caused by these mutations has been shown to be associated with signs of apoptosis and to cause cell loss. Mutations of the mitochondrial genome have also been shown to accumulate with age and in common neurodegenerative diseases, such as Parkinson's disease. This review presents recent data to show that the information gained from studying patients with mitochondrial disorders can help our understanding of the role of mitochondrial DNA mutations in brain aging and neurodegeneration.

Publication types

  • Review

MeSH terms

  • Aging / genetics*
  • Animals
  • DNA, Mitochondrial / genetics*
  • Disease Models, Animal
  • Humans
  • Mice
  • Mutation*
  • Neurodegenerative Diseases / genetics*


  • DNA, Mitochondrial