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. 2002 Apr 15;363(Pt 2):321–327. doi: 10.1042/0264-6021:3630321

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.

Leonardo Salviati 1, Evelyn Hernandez-Rosa 1, Winsome F Walker 1, Sabrina Sacconi 1, Salvatore DiMauro 1, Eric A Schon 1, Mercy M Davidson 1
PMCID: PMC1222481  PMID: 11931660

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.

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Selected References

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