The genetics and pathology of oxidative phosphorylation.
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.
Smeitink
J
J
Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. j.smeitink@ckskg.azn.nl
van den Heuvel
L
L
DiMauro
S
S
D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D004579:Electron Transport; D005808:Genes, Recessive; D006801:Humans; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008967:Molecular Biology; D009132:Muscles / Q000166:cytology; D009154:Mutation; D010085:Oxidative Phosphorylation; D010641:Phenotype
D004272:DNA, Mitochondrial