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Título : A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
Autor : Quinzii, Catarina, Naini, Ali, Salviati, Leonardo, Trevisson, Eva, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio
Palabras clave : Coenzyme Q10
Alkyl and Aryl Transferases
Mitochondrial encephalomyopathies
4-hydroxybenzoate polyprenyltransferase
Fecha de publicación : Feb-2006
Editor: Elsevier
American Society of Human Genetics
Citación : American Journal of Human Genetics 78(2): 345-349 (2006)
Resumen: Ubiquinone (coenzyme Q10 or CoQ10) is a lipid-soluble component of virtually all cell membranes, where it functions as a mobile electron and proton carrier. CoQ10 deficiency is inherited as an autosomal recessive trait and has been associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction, and an ataxic form with cerebellar atrophy. In two siblings of consanguineous parents with the infantile form of CoQ10 deficiency, we identified a homozygous missense mutation in the COQ2 gene, which encodes para-hydroxybenzoate-polyprenyl transferase. The A→G transition at nucleotide 890 changes a highly conserved tyrosine to cysteine at amino acid 297 within a predicted transmembrane domain. Radioisotope assays confirmed a severe defect of CoQ10 biosynthesis in the fibroblasts of one patient. This mutation in COQ2 is the first molecular cause of primary CoQ10 deficiency.
Descripción : 5 páginas, 2 figuras, 1 tabla.
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ISSN: 0002-9297
DOI: 10.1086/500092
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