Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
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چکیده
منابع مشابه
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
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. M...
متن کاملAssociation of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
BACKGROUND SCO2 is a cytochrome c oxidase (COX) assembly gene that encodes a mitochondrial inner membrane protein that probably functions as a copper transporter. Mutations in SCO2 have been associated with severe COX deficiency and early-onset fatal infantile hypertrophic cardiomyopathy, encephalopathy, and neurogenic muscle atrophy. Fetal wastage has not been described in association with mut...
متن کاملCytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
BACKGROUND Mutations in the SCO2 gene have been associated with fatal cardioencephalomyopathy. OBJECTIVE To report a novel SCO2 mutation with prominent spinal cord involvement mimicking spinal muscular atrophy (Werdnig-Hoffmann disease). PATIENT AND METHODS An infant girl presented at birth with generalized weakness, hypotonia, and lactic acidosis. At 1 month of age she developed hypertroph...
متن کاملAnalysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases
A large number of mutations have been reported in SCO2 (synthesis of cytochrome c oxidase) gene in association with COX deficiency reported in different diseases such as cardioencephalomyopathy, cardiomyopathy and Leigh syndrome. However, very few of these mutations have been functionally analyzed.SCO2 gene encodes for an essential assembly factor for the formation of cytochrome c oxidase (COX)...
متن کاملTissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
The biogenesis of eukaryotic COX (cytochrome c oxidase) requires several accessory proteins in addition to structural subunits and prosthetic groups. We have analysed the assembly state of COX and SCO2 protein levels in various tissues of six patients with mutations in SCO2 and SURF1. SCO2 is a copper-binding protein presumably involved in formation of the Cu(A) centre of the COX2 subunit. The ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2000
ISSN: 1460-2083
DOI: 10.1093/hmg/9.5.795