Open AccessCoenzyme Q and mitochondrial disease
Author(s) -
Quinzii Catarina M.,
Hirano Michio
Publication year - 2010
Publication title -
developmental disabilities research reviews
Language(s) - English
Resource type - Journals
eISSN - 1940-5529
pISSN - 1940-5510
DOI - 10.1002/ddrr.108
Subject(s) - coenzyme q – cytochrome c reductase , coenzyme q10 , mitochondrial respiratory chain , pathogenesis , ataxia , mitochondrial myopathy , respiratory chain , mitochondrial disease , biology , mitochondrion , genetics , medicine , gene , mitochondrial dna , immunology , endocrinology , neuroscience , cytochrome c
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. © 2010 Wiley‐Liss, Inc. Dev Disabil Res Rev 2010;16:183–188.