title: Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
abstract: Inherited defects of the mitochondrial succinate dehydrogenase (SDH) in humans are associated with striking variable clinical presentations ranging from early-onset devastating encephalomyopathy to tumour susceptibility in adulthood, or optic atrophy in the elderly. Although different genes encoding the four subunits of the SDH have been found mutated in association with these different phenotypes, we propose that the wide clinical spectrum actually originates from the specific roles of the SDH in the respiratory chain and the mitochondria. In particular, beside its function in the Krebs cycle and the respiratory chain, the specific redox properties of the enzyme could confer to the SDH a specific function in superoxide handling.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, Paris 75015, France. rustin@necker.fr
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Agnès
authors.initials: A
authors.lastname: Rötig
mesh_terms: D000255:Adenosine Triphosphate; D000818:Animals; D017173:Caenorhabditis elegans / Q000378:metabolism; D002952:Citric Acid Cycle; D004579:Electron Transport; D030342:Genetic Diseases, Inborn / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D009154:Mutation; D010235:Paraganglioma / Q000378:metabolism; D010641:Phenotype; D013385:Succinate Dehydrogenase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D014451:Ubiquinone / Q000378:metabolism
chemical_list: D014451:Ubiquinone; D000255:Adenosine Triphosphate; D013385:Succinate Dehydrogenase