title: Coenzyme Q and mitochondrial disease.
abstract: Coenzyme Q(10) (CoQ(10)) is an essential electron carrier in the mitochondrial respiratory chain and an important antioxidant. Deficiency of CoQ(10) is a clinically and molecularly heterogeneous syndrome, which, to date, has been found to be autosomal recessive in inheritance and generally responsive to CoQ(10) supplementation. CoQ(10) deficiency has been associated with five major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) cerebellar ataxia, (4) isolated myopathy, and (5) nephrotic syndrome. In a few patients, pathogenic mutations have been identified in genes involved in the biosynthesis of CoQ(10) (primary CoQ(10) deficiencies) or in genes not directly related to CoQ(10) biosynthesis (secondary CoQ(10) deficiencies). Respiratory chain defects, ROS production, and apoptosis contribute to the pathogenesis of primary CoQ(10) deficiencies. In vitro and in vivo studies are necessary to further understand the pathogenesis of the disease and to develop more effective therapies.
authors.affiliation: Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, USA.
authors.forename: Catarina M
authors.initials: CM
authors.lastname: Quinzii
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
mesh_terms: D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018450:Disease Progression; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007678:Kidney Glomerulus; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D017240:Mitochondrial Myopathies / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000235:genetics
chemical_list: D014451:Ubiquinone; C024989:coenzyme Q10
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