Function and dysfunction of the oxidative phosphorylation system

  • Leo G.J. NijtmansEmail author
  • Cristina Ugalde
  • Lambert P. van den Heuvel
  • Jan A.M. Smeitink
Part of the Topics in Current Genetics book series (TCG, volume 8)


The key energy source in a cell is the high-energy compound ATP, which is mainly generated by oxidative phosphorylation (OXPHOS). The mammalian OXPHOS system comprises five large membrane complexes, which are believed to be organised in higher order assemblies, supercomplexes. The complexes are built from numerous polypeptide subunits and prosthetic groups and their biosynthesis is a complicated process that requires both nuclear and mitochondrial gene products. Many genetic defects can occur that cause improper function of the OXPHOS system and a decrease in ATP production, but also can lead to an increase of toxic reactive oxygen species. Recent advances have revealed new structural components and components of the assembly machinery of the OXPHOS system. This review describes the components of the OXPHOS system, their organisation, proteins involved in their biogenesis, and mutations in these components, which have been described to affect OXPHOS function leading to disorders.


OXPHOS System High Order Assembly DVVRFLDWHG ZLWK Mitochondrial Gene Product ZHUH IRXQG 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin/Heidelberg 2004

Authors and Affiliations

  • Leo G.J. Nijtmans
    • 1
    Email author
  • Cristina Ugalde
    • 1
  • Lambert P. van den Heuvel
    • 1
  • Jan A.M. Smeitink
    • 1
  1. 1.Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 10, PO Box 9101, 6500 HB NijmegenThe Netherlands

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