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

The Biochemical Journal
Leonardo SalviatiM M Davidson

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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Citations

May 26, 2005·Journal of Molecular and Cellular Cardiology·Mercy M DavidsonNithila D Isaac
Jun 27, 2003·The New England Journal of Medicine·Salvatore DiMauro, Eric A Schon
Mar 14, 2008·Human Molecular Genetics·Sabrina SacconiMercy M Davidson
Oct 20, 2009·Human Molecular Genetics·Hua YangEric A Schon
Jan 12, 2007·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Jennifer M Zee, D Moira Glerum
Apr 21, 2012·Orphanet Journal of Rare Diseases·Alberto CasarinLeonardo Salviati
Jan 23, 2003·Proceedings of the National Academy of Sciences of the United States of America·Iqbal HamzaJonathan D Gitlin
Dec 3, 2014·Molecular Genetics and Metabolism·Mauro ScarpelliMassimiliano Filosto
Jun 6, 2003·Current Opinion in Genetics & Development·Massimo ZevianiValerio Carelli
Feb 5, 2004·Reproductive Biomedicine Online·Patrick F Chinnery
Nov 3, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Maciej PronickiEwa Popowska
Aug 18, 2009·Mitochondrion·Mercy M DavidsonEvelyn Hernandez-Rosa
Feb 24, 2009·Journal of Molecular and Cellular Cardiology·Mercy M DavidsonClaudia Nesti
Mar 27, 2007·Neuromuscular Disorders : NMD·K AuréV Mouly
May 6, 2004·Annals of the New York Academy of Sciences·Salvatore DimauroAli Naini
Apr 27, 2011·The FEBS Journal·Lucia BanciSimone Ciofi-Baffoni
Mar 17, 2010·BioFactors·Janet Y Uriu-AdamsCarl L Keen
Jun 5, 2008·Biochimica Et Biophysica Acta·Antoni BarrientosFlavia Fontanesi
Dec 7, 2010·Pharmacology & Therapeutics·Y James Kang
Jul 30, 2004·Biochimica Et Biophysica Acta·Salvatore DiMauro
Oct 22, 2008·Methods : a Companion to Methods in Enzymology·Denis M Medeiros
Mar 18, 2008·The Journal of Biological Chemistry·Kristel VercauterenRichard C Scarpulla

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