title: Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.
abstract: Human SCO2 is a nuclear-encoded Cu-binding protein, presumed to be responsible for the insertion of Cu into the mitochondrial cytochrome c oxidase (COX) holoenzyme. Mutations in SCO2 are associated with cardioencephalomyopathy and COX deficiency. Studies in yeast and bacteria have shown that Cu supplementation can restore COX activity in cells harbouring mutations in genes involving Cu transport. Therefore we investigated whether Cu supplementation could restore COX activity in cultured cells from patients with SCO2 mutations. Our data demonstrate that the COX deficiency observed in fibroblasts, myoblasts and myotubes from patients with SCO2 mutations can be restored to almost normal levels by the addition of CuCl(2) to the growth medium.
authors.affiliation: Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, U.S.A.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Evelyn
authors.initials: E
authors.lastname: Hernandez-Rosa
authors.forename: Winsome F
authors.initials: WF
authors.lastname: Walker
authors.forename: Sabrina
authors.initials: S
authors.lastname: Sacconi
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Eric A
authors.initials: EA
authors.lastname: Schon
authors.forename: Mercy M
authors.initials: MM
authors.lastname: Davidson
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000378:metabolism; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics / Q000378:metabolism; D002352:Carrier Proteins; D002478:Cells, Cultured; D003300:Copper / Q000494:pharmacology*; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism*; D006579:Heterozygote; D006651:Histocytochemistry; D006801:Humans; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; D009132:Muscles / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D011506:Proteins / Q000235:genetics* / Q000378:metabolism*; D029701:Saccharomyces cerevisiae Proteins
chemical_list: D002352:Carrier Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; D011506:Proteins; C498516:SCO2 protein, S cerevisiae; C400285:SCO2 protein, human; D029701:Saccharomyces cerevisiae Proteins; D003300:Copper; D003576:Electron Transport Complex IV