Mitochondrial DNA and disease

J Pathol. 2012 Jan;226(2):274-86. doi: 10.1002/path.3028. Epub 2011 Nov 21.


Mitochondrial DNA (mtDNA) defects are a relatively common cause of inherited disease and have been implicated in both ageing and cancer. MtDNA encodes essential subunits of the mitochondrial respiratory chain and defects result in impaired oxidative phosphorylation (OXPHOS). Similar OXPHOS defects have been shown to be present in a number of neurodegenerative conditions, including Parkinson's disease, as well as in normal ageing human tissues. Additionally, a number of tumours have been shown to contain mtDNA mutations and an altered metabolic phenotype. In this review we outline the unique characteristics of mitochondrial genetics before detailing important pathological features of mtDNA diseases, focusing on adult neurological disease as well as the role of mtDNA mutations in neurodegenerative diseases, ageing and cancer.

Publication types

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

MeSH terms

  • Aging / genetics
  • DNA, Mitochondrial / genetics*
  • Gene Deletion
  • Humans
  • Mitochondrial Diseases / genetics*
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Neurodegenerative Diseases / genetics*
  • Oxidative Phosphorylation*
  • Oxidative Stress / genetics
  • Phenotype
  • Point Mutation / genetics


  • DNA, Mitochondrial