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Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/40637
Title: A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
Authors: Quinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido; DiMauro, Salvatore; Hirano, Michio
Keywords: Coenzyme Q10
Alkyl and Aryl Transferases
Mitochondrial encephalomyopathies
4-hydroxybenzoate polyprenyltransferase
Issue Date: Feb-2006
Publisher: Elsevier
American Society of Human Genetics
Citation: American Journal of Human Genetics 78(2): 345-349 (2006)
Abstract: 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.
Description: 5 páginas, 2 figuras, 1 tabla.
Publisher version (URL): http://dx.doi.org/10.1086/500092
URI: http://hdl.handle.net/10261/40637
DOI: 10.1086/500092
ISSN: 0002-9297
E-ISSN: 1537-6605
References: PMC1380241
PMID: 16400613
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