Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes

Mol Genet Metab. 2012 Feb;105(2):173-9. doi: 10.1016/j.ymgme.2011.10.001. Epub 2011 Oct 20.


Complex I deficiency is the most frequent cause of respiratory chain diseases. This large multiprotein complex is composed in human of 45 structural subunits, of which 7 are mitochondrial-encoded and 38 are nuclear-encoded. Most of the pathological mutations responsible for complex I deficiencies have been identified to date in complex I structural subunits. Numerous studies from last decade gave some insight into the biogenesis of this huge multi subunit complex of double genetic origin. A sequential incorporation of the structural subunits as well as ten complex I assembly factors has been described. Here, we present a short overview of the human complex I biogenesis and we review the pathological mutations identified to date in eight of the ten known complex I assembly factors.

Publication types

  • Review

MeSH terms

  • Electron Transport / genetics*
  • Electron Transport Complex I / deficiency*
  • Electron Transport Complex I / genetics*
  • Genetic Association Studies
  • Humans
  • Mitochondria / enzymology*
  • Mitochondrial Diseases / enzymology*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Proteins / genetics
  • Mitochondrial Proteins / metabolism
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism
  • Mutation
  • Nuclear Proteins / classification
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism


  • Mitochondrial Proteins
  • Molecular Chaperones
  • Nuclear Proteins
  • Electron Transport Complex I