Human NADH:ubiquinone oxidoreductase

J Bioenerg Biomembr. 2001 Jun;33(3):259-66. doi: 10.1023/a:1010743321800.


NADH:ubiquinone oxidoreductase consists of at least 43 proteins; seven are encoded by the mitochondrial genome, while the remainder are encoded by the nuclear genome. A deficient activity of this enzyme complex is frequently observed in the clinical heterogeneous group of mitochondrial disorders, with Leigh (-like) disease as the main contributor. Enzyme complex activity measurement in skeletal muscle is the mainstay of the diagnostic process. Fibroblast studies are a prerequisite whenever prenatal enzyme diagnosis is considered. Mitochondrial DNA mutations are found in approximately 5-10% of all complex I deficiencies. Recently, all structural nuclear complex I genes have been determined at the cDNA level and several at the gDNA level. A comprehensive mutational analysis study of all complex I nuclear genes in a group of 20 patients exhibiting this deficiency revealed mutations in about 40%. Here, we describe the enzymic methods we use and the recent progress made in genomics and cell biology of human complex I.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chorionic Villi / enzymology
  • Electron Transport Complex I
  • Genomics
  • Humans
  • Metabolism, Inborn Errors / enzymology
  • Metabolism, Inborn Errors / genetics
  • Mitochondrial Diseases / enzymology
  • Mitochondrial Diseases / genetics
  • Models, Biological
  • Muscle, Skeletal / enzymology
  • NADH, NADPH Oxidoreductases / deficiency*
  • NADH, NADPH Oxidoreductases / genetics*
  • NADH, NADPH Oxidoreductases / physiology
  • Oxidative Phosphorylation
  • Skin / enzymology


  • NADH, NADPH Oxidoreductases
  • Electron Transport Complex I