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

作者：Pagniez Mammeri Helene; Rak Malgorzata; Legrand Alain; Benit Paule; Rustin Pierre; Slama Abdelhamid^*

来源：Molecular Genetics and Metabolism, 2012, 105(2): 173-179.

DOI：10.1016/j.ymgme.2011.10.001

• Complex I or nicotinamide adenine dinucleotide (NADH) - ubiquinone oxidoreductase
• Mitochondrial respiratory chain
• Complex I assembly chaperones
• Complex I biogenesis

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.

• 出版日期2012-2