title: Tissue specific defect of complex I of the mitochondrial respiratory chain.
abstract: Deficiency of complex I is one of the most commonly reported defects of the mitochondrial respiratory chain in man. Clinical evidence of tissue specific expression of complex I deficiency has not previously been confirmed biochemically. We report here slow oxidation of NAD+-linked substrates, low activity of complex I and low amounts of immunoreactive complex I peptides in skeletal muscle mitochondria from a patient with muscle weakness and lactic acidosis. In liver mitochondria complex I activity was normal and all the immunoreactive subunits of complex I were present in normal amounts.
authors.affiliation: Department of Clinical Neuroscience, University of Newcastle upon Tyne, U.K.
authors.forename: N J
authors.initials: NJ
authors.lastname: Watmough
authors.forename: M A
authors.initials: MA
authors.lastname: Birch-Machin
authors.forename: L A
authors.initials: LA
authors.lastname: Bindoff
authors.forename: A
authors.initials: A
authors.lastname: Aynsley-Green
authors.forename: K
authors.initials: K
authors.lastname: Simpson
authors.forename: C I
authors.initials: CI
authors.lastname: Ragan
authors.forename: H S
authors.initials: HS
authors.lastname: Sherratt
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D002648:Child; D003579:Cytochrome Reductases / Q000172:deficiency*; D003580:Cytochromes / Q000378:metabolism; D004579:Electron Transport; D005260:Female; D006801:Humans; D015151:Immunoblotting; D008930:Mitochondria, Liver / Q000201:enzymology; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009124:Muscle Proteins / Q000032:analysis; D009132:Muscles / Q000201:enzymology*; D009245:NADH Dehydrogenase / Q000172:deficiency*; D009928:Organ Specificity; D013379:Substrate Specificity
chemical_list: D003580:Cytochromes; D009124:Muscle Proteins; D003579:Cytochrome Reductases; D009245:NADH Dehydrogenase