title: Iron-sulfur cluster biogenesis and human disease.
abstract: Iron-sulfur (Fe-S) clusters are essential for numerous biological processes, including mitochondrial respiratory chain activity and various other enzymatic and regulatory functions. Human Fe-S cluster assembly proteins are frequently encoded by single genes, and inherited defects in some of these genes cause disease. Recently, the spectrum of diseases attributable to abnormal Fe-S cluster biogenesis has extended beyond Friedreich ataxia to include a sideroblastic anemia with deficiency of glutaredoxin 5 and a myopathy associated with a deficiency of a Fe-S cluster assembly scaffold protein, ISCU. Mutations within other mammalian Fe-S cluster assembly genes could be causative for human diseases that manifest distinctive combinations of tissue-specific impairments. Thus, defects in the iron-sulfur cluster biogenesis pathway could underlie many human diseases.
authors.affiliation: Molecular Medicine Program, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. rouault@mail.nih.gov
authors.forename: Tracey A
authors.initials: TA
authors.lastname: Rouault
authors.forename: Wing Hang
authors.initials: WH
authors.lastname: Tong
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000756:Anemia, Sideroblastic / Q000235:genetics; D005621:Friedreich Ataxia / Q000235:genetics; D054477:Glutaredoxins / Q000235:genetics; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics; D007506:Iron-Sulfur Proteins / Q000096:biosynthesis* / Q000235:genetics*; D008954:Models, Biological; D009135:Muscular Diseases / Q000235:genetics; D009154:Mutation; D000096923:Frataxin
chemical_list: D018528:ATP-Binding Cassette Transporters; D054477:Glutaredoxins; D033862:Iron-Binding Proteins; D007506:Iron-Sulfur Proteins; D000096923:Frataxin; C113037:ABCB7 protein, human; C516011:GLRX5 protein, human; C506160:ISCU protein, human