Tissue specific defect of complex I of the mitochondrial respiratory chain.
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.
Watmough
N J
NJ
Department of Clinical Neuroscience, University of Newcastle upon Tyne, U.K.
Birch-Machin
M A
MA
Bindoff
L A
LA
Aynsley-Green
A
A
Simpson
K
K
Ragan
C I
CI
Sherratt
H S
HS
Turnbull
D M
DM
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
D003580:Cytochromes; D009124:Muscle Proteins; D003579:Cytochrome Reductases; D009245:NADH Dehydrogenase