title: Primary and secondary CoQ(10)  deficiencies in humans.
abstract: CoQ(10)  deficiencies are clinically and genetically heterogeneous. This syndrome 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 variably contribute to the pathogenesis of primary CoQ(10)  deficiencies.
authors: Department of Neurology, Columbia University Medical Center, New York, USA.
authors: Catarina M
authors: CM
authors: Quinzii
authors: Michio
authors: M
authors: Hirano
mesh_terms: D001072:Apraxias / Q000235:genetics / Q000378:metabolism; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000378:metabolism; D002478:Cells, Cultured; D002524:Cerebellar Ataxia / Q000151:congenital; D004268:DNA-Binding Proteins / Q000235:genetics; D044927:Electron-Transferring Flavoproteins / Q000235:genetics; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D034141:Hypoalbuminemia / Q000235:genetics / Q000378:metabolism; D007506:Iron-Sulfur Proteins / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000378:metabolism; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency / Q000378:metabolism
chemical_list: C438188:APTX protein, human; D004268:DNA-Binding Proteins; D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D009687:Nuclear Proteins; D014451:Ubiquinone; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; C024989:coenzyme Q10