title: Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
abstract: 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.
authors.affiliation: Laboratoire de Biochimie, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre cedex, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Pagniez-Mammeri
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Rak
authors.forename: Alain
authors.initials: A
authors.lastname: Legrand
authors.forename: Paule
authors.initials: P
authors.lastname: Bénit
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Slama
mesh_terms: D004579:Electron Transport / Q000235:genetics*; D042967:Electron Transport Complex I / Q000172:deficiency* / Q000235:genetics*; D056726:Genetic Association Studies; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D028361:Mitochondrial Diseases / Q000201:enzymology* / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics / Q000378:metabolism; D018832:Molecular Chaperones / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins / Q000145:classification / Q000235:genetics* / Q000378:metabolism
chemical_list: D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; D009687:Nuclear Proteins; D042967:Electron Transport Complex I