Human mitochondrial DNA: roles of inherited and somatic mutations

Nat Rev Genet. 2012 Dec;13(12):878-90. doi: 10.1038/nrg3275.


Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.

Publication types

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

MeSH terms

  • Aging / genetics
  • Aging / metabolism
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Electron Transport
  • Genome, Mitochondrial
  • Germ-Line Mutation
  • Heredodegenerative Disorders, Nervous System / genetics
  • Heredodegenerative Disorders, Nervous System / metabolism
  • Humans
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism
  • Models, Biological
  • Models, Genetic
  • Mutation*
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Oxidative Phosphorylation


  • DNA, Mitochondrial