Annals of Neurology · 1988 · 91 citations · 18 references
Life SciencesBiochemistryMolecular BiologyEnzymologyMetabolismMitochondrial BiologyEnzyme DeficienciesMitochondrial BiochemistryMitochondrial DiseaseMitochondrial DisordersMitochondrial MetabolismMitochondrial PhysiologyLactic AcidosisMelas SyndromeMitochondrial EncephalomyopathyMitochondrial Respiratory Complex IRespiratory Chain Complex DeficienciesRespiratory Chain ComplexesRespiratory Chain DeficiencyRespiratory Chain Reactions
Enzymic activities of the respiratory chain and content of immunochemically detectable subunits in NADH-ubiquinone oxidoreductase (Complex I) were measured in mitochondria from the skeletal muscles of 4 patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The rotenone-sensitive NADH-cytochrome c reductase activity was extremely decreased, ranging from 0% to 27% of the control value. In all patients, the content of subunits of Complex I was also reduced in parallel with the rotenone-sensitive NADH-cytochrome c reductase activity. It is suggested that the variation in the degree of deficiency of Complex I subunits could explain the clinical heterogeneity of patients with MELAS.
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