Deficiency of subunits in heart mitochondrial NADH-ubiquinone oxidoreductase of a patient with mitochondrial encephalomyopathy and cardiomyopathy.
The heart mitochondria isolated from a patient with hypertrophic cardiomyopathy associated with mitochondrial encephalomyopathy were analyzed by immunoblotting using specific antibody against each of the purified mitochondrial energy transducing complexes from beef heart. Subunits of NADH-ubiquinone oxidoreductase (Complex I) were markedly decreased and those of cytochrome c oxidase (Complex IV) were decreased to some extent, but the deficiency of any of these subunits was only partial. On the other hand, the contents of subunits of ubiquinol-cytochrome c oxidoreductase (Complex III) were normal. These results suggest that the decreased levels of some of the Complex I subunits might be the primary cause of disorder in this patient.
D000293:Adolescent; D001928:Brain Diseases, Metabolic / Q000201:enzymology*; D002312:Cardiomyopathy, Hypertrophic / Q000201:enzymology*; D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D008929:Mitochondria, Heart / Q000201:enzymology*; D009135:Muscular Diseases / Q000201:enzymology*; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency* / Q000276:immunology
D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases