Batteries not included: diagnosis and management of mitochondrial disease

J Intern Med. 2009 Feb;265(2):210-28. doi: 10.1111/j.1365-2796.2008.02066.x.


In 1998, Wallace et al. (Science 1988; 242: 1427-30) published evidence that the mutation m.11778G>A was responsible for causing Leber's hereditary optic neuropathy. This was the first account of a mitochondrial DNA mutation being irrefutably linked with a human disease and was swiftly followed by a report from Holt et al. (Nature 1988; 331: 717-9) identifying deletions in mitochondrial DNA as a cause for myopathy. During the subsequent 20 years there has been an exponential growth in 'mitochondrial medicine', with clinical, biochemical and genetic characterizations of a wide range of mitochondrial diseases and evidence implicating mitochondria in a host of many other clinical conditions including ageing, neurodegenerative illness and cancer. In this review we shall focus on the diagnosis and management of mitochondrial diseases that lead directly or indirectly to disruption of the process of oxidative phosphorylation.

Publication types

  • Review

MeSH terms

  • DNA, Mitochondrial / genetics
  • Gene Deletion
  • Humans
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / etiology
  • Mitochondrial Diseases / therapy*
  • Oxidative Phosphorylation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length / genetics


  • DNA, Mitochondrial