title: The molecular genetics of coenzyme Q biosynthesis in health and disease.
abstract: Coenzyme Q, or ubiquinone, is an endogenously synthesized lipid-soluble antioxidant that plays a major role in the mitochondrial respiratory chain. Although extensively studied for decades, recent data on coenzyme Q have painted an exciting albeit incomplete picture of the multiple facets of this molecule's function. In humans, mutations in the genes involved in the biosynthesis of coenzyme Q lead to a heterogeneous group of rare disorders, with most often severe and debilitating symptoms. In this review, we describe the current understanding of coenzyme Q biosynthesis, provide a detailed overview of human coenzyme Q deficiencies and discuss the existing mouse models for coenzyme Q deficiency. Furthermore, we briefly examine the current state of affairs in non-mitochondrial coenzyme Q functions and the latter's link to statin.
authors.affiliation: Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR 7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France.
authors.forename: Leila N
authors.initials: LN
authors.lastname: Laredj
authors.affiliation: Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR 7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France.
authors.forename: Floriana
authors.initials: F
authors.lastname: Licitra
authors.affiliation: Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France; Inserm, U596, Illkirch, France; CNRS, UMR 7104, Illkirch, France; Université de Strasbourg, Strasbourg, France; Collège de France, Chaire de génétique humaine, Illkirch, France. Electronic address: hpuccio@igbmc.fr.
authors.forename: Hélène M
authors.initials: HM
authors.lastname: Puccio
mesh_terms: D000818:Animals; D001259:Ataxia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D005786:Gene Expression Regulation; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000378:metabolism / Q000494:pharmacology; D008798:Mevalonic Acid / Q000378:metabolism; D051379:Mice; D008928:Mitochondria / Q000187:drug effects / Q000235:genetics* / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D018908:Muscle Weakness / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D012441:Saccharomyces cerevisiae / Q000187:drug effects / Q000235:genetics / Q000378:metabolism; D029701:Saccharomyces cerevisiae Proteins / Q000235:genetics / Q000378:metabolism; D014451:Ubiquinone / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism
chemical_list: D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D024101:Mitochondrial Proteins; D029701:Saccharomyces cerevisiae Proteins; D014451:Ubiquinone; D008798:Mevalonic Acid
keywords: Ataxia; Coenzyme Q; Lipid metabolism; Mitochondria; Mouse models