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Title

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

AuthorsQuinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido ; DiMauro, Salvatore; Hirano, Michio
KeywordsCoenzyme Q10
Cysteine
Tyrosine
Alkyl and Aryl Transferases
Fibroblasts
Mitochondrial encephalomyopathies
Ubiquinone
4-hydroxybenzoate polyprenyltransferase
Issue DateFeb-2006
PublisherElsevier
American Society of Human Genetics
CitationAmerican Journal of Human Genetics 78(2): 345-349 (2006)
AbstractUbiquinone (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.
Description5 páginas, 2 figuras, 1 tabla.
Publisher version (URL)http://dx.doi.org/10.1086/500092
URIhttp://hdl.handle.net/10261/40637
DOI10.1086/500092
ISSN0002-9297
E-ISSN1537-6605
Appears in Collections:(CABD) Artículos
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