Article
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Orphanet journal of rare diseases - 19 Apr 2012
Casarin Alberto, Giorgi Gianpietro, Pertegato Vanessa, Siviero Roberta, Cerqua Cristina, Doimo Mara, Basso Giuseppe, Sacconi Sabrina, Cassina Matteo, Rizzuto Rosario, Brosel Sonja, M Davidson Mercy, Dimauro Salvatore, Schon Eric A, Clementi Maurizio, Trevisson Eva, Salviati Leonardo
Abstract excerpt
BACKGROUND: Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patients' cells. Bezafibrate (BZF), an approved hypolipidemic agent, ameliorates the COX deficiency in mice with mutations in COX10, another COX-assembly gene. METHODS: We have...
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