title: [Susceptibility gene in multiple system atrophy (MSA)].
abstract: To elucidate molecular bases of multiple system atrophy (MSA), we first focused on recently identified MSA multiplex families. Though linkage analyses followed by whole genome resequencing, we have identified a causative gene, COQ2, for MSA. We then conducted comprehensive nucleotide sequence analysis of COQ2 of sporadic MSA cases and controls, and found that functionally deleterious COQ2 variants confer a strong risk for developing MSA. COQ2 encodes an enzyme in the biosynthetic pathway of coenzyme Q10. Decreased synthesis of coenzyme Q10 is considered to be involved in the pathogenesis of MSA through decreased electron transport in mitochondria and increased vulnerability to oxidative stress.
authors: Department of Neurology, The University of Tokyo Hospital.
authors: Shoji
authors: S
authors: Tsuji
mesh_terms: D000255:Adenosine Triphosphate / Q000096:biosynthesis; D019883:Alkyl and Aryl Transferases / Q000235:genetics*; D004579:Electron Transport; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D023281:Genomics; D006801:Humans; D008928:Mitochondria / Q000378:metabolism; D019578:Multiple System Atrophy / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D018384:Oxidative Stress; D012306:Risk; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000502:physiology
chemical_list: D014451:Ubiquinone; D000255:Adenosine Triphosphate; D019883:Alkyl and Aryl Transferases; C021386:4-hydroxybenzoate polyprenyltransferase; C024989:coenzyme Q10