title: Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction.
abstract: Mitochondria isolated from the skeletal muscle of an infant with mitochondrial myopathy and renal dysfunction were analyzed. Activities of NADH dehydrogenase, succinate dehydrogenase, ubiquinol-cytochrome c oxidoreductase, and cytochrome c oxidase were severely decreased. Cytochromes aa3 and b were not detected in patient mitochondria, and the cytochrome c+c1 content was 14% of control. Immunoblotting demonstrated that the amount of cytochrome c oxidase subunits were markedly decreased in patient mitochondria. The polypeptide profile of patient mitochondria was quite different from that of control mitochondria. These results suggest that deterioration of mitochondria in a severe case of mitochondrial myopathy involves not only cytochrome c oxidase but also other mitochondrial proteins.
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency; D005260:Female; D006801:Humans; D007120:Immunochemistry; D007223:Infant; D007674:Kidney Diseases / Q000150:complications / Q000201:enzymology*; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism*; D009135:Muscular Diseases / Q000150:complications / Q000201:enzymology*; D010455:Peptides / Q000378:metabolism*
chemical_list: D010455:Peptides