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Current Genomics


ISSN (Print): 1389-2029
ISSN (Online): 1875-5488

Genetics of Primary CoQ10 Deficiency

Author(s): A. B. Naini, C. M. Quinzii, P. Navas, S. DiMauro and M. Hirano

Volume 7, Issue 6, 2006

Page: [343 - 349] Pages: 7

DOI: 10.2174/138920206778948682

Price: $65


Coenzyme Q10 (CoQ10) is a lipophilic component of the mitochondrial respiratory enzyme chain, which transfers electrons to complex III (cytochrome bc1 complex) from complex I (NADH-CoQ reductase), complex II (succinate dehydrogenase), and from the oxidation of fatty acids and branched-chain amino acids via flavin-linked dehydrogenases. Additional cellular functions of CoQ10 have been described. Deficiency of CoQ10 in muscle has been identified in patients with a spectrum of encephalomyopathies ranging from predominant cerebellar ataxia to pure myopathy. In a family with two children affected by infantile-onset encephalomyopathy and nephropathy, the first mutation in a CoQ biosynthetic gene, COQ2, was identified, thus proving the existence of primary CoQ10 deficiency. This article reviews the current state-of-knowledge regarding biochemical and molecular genetic features of inherited CoQ10 deficiency.

Keywords: para-hydroxybenzoate (PHB), S. cerevisiae, C. elegans, nuclear DNA (nDNA), ataxia oculomotor apraxia 1 (AOA1)

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