Coenzyme Q and mitochondrial disease

✍ Scribed by Catarina M. Quinzii; Michio Hirano

• Publisher: Wiley (John Wiley & Sons)
• Year: 2010
• Tongue: English
• Weight: 151 KB
• Volume: 16
• Category: Article
• ISSN: 1940-5510
• DOI: 10.1002/ddrr.108

✦ Synopsis

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.