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coenzyme Q10 deficiency

MIM.607426

Saturday 18 February 2006

Ubiquinone (coenzyme Q(10) or CoQ(10)) is a lipid-soluble component of virtually all cell membranes, where it functions as a mobile electron and proton carrier.

CoQ(10) 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.

Etiology

- mutations in COQ2 gene

  • COQ2, or parahydroxybenzoate-polyprenyltransferase, catalyzes one of the final reactions in the biosynthesis of CoQ, the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. CoQ (ubiquinone) serves as a redox carrier in the mitochondrial respiratory chain and is a lipid-soluble antioxidant.

References

- Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, Dimauro S, Hirano M. A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. Am J Hum Genet. 2006 Feb;78(2):345-9. PMID: 16400613