The genetics and pathology of oxidative phosphorylation

Nat Rev Genet. 2001 May;2(5):342-52. doi: 10.1038/35072063.


The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical pathway in the production of ATP. The OXPHOS system consists of five multiprotein complexes, the individual subunits of which are encoded either by the mitochondrial or by the nuclear genome. Defects in the OXPHOS system result in devastating, mainly multisystem, diseases, and recent years have seen the description of the underlying genetic mutations in mitochondrial and nuclear genes. Advances in this arena have profited from progress in various genome projects, as well as improvements in our ability to create relevant animal models.

Publication types

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

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Electron Transport
  • Genes, Recessive*
  • Humans
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / metabolism
  • Molecular Biology
  • Muscles / cytology
  • Mutation*
  • Oxidative Phosphorylation*
  • Phenotype


  • DNA, Mitochondrial