title: Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.
abstract: We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia. Muscle biopsy demonstrated low activity of complexes 1 and 4 of the respiratory chain. Electron microscopy revealed paracrystalline inclusions in most mitochondria. Southern blot of the mitochondrial DNA did not show any large-scale rearrangements. The patient was found to be homozygous for the 656C-->T mutation in the pseudouridine synthase 1 gene (PUS1). Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia is an oxidative phosphorylation disorder causing sideroblastic anemia, myopathy, and, in some cases, mental retardation that is due to mutations in the nuclear-encoded PUS1 gene. This finding provides additional evidence that mitochondrial ribonucleic acid modification impacts the phenotypic expression of oxidative phosphorylation disorders.
authors.affiliation: Department of Pediatircs, Schneider Children's Medical of Israel, Petah-Tiqva.
authors.forename: Avraham
authors.initials: A
authors.lastname: Zeharia
authors.forename: Nathan
authors.initials: N
authors.lastname: Fischel-Ghodsian
authors.forename: Kari
authors.initials: K
authors.lastname: Casas
authors.forename: Yelena
authors.initials: Y
authors.lastname: Bykhocskaya
authors.forename: Hana
authors.initials: H
authors.lastname: Tamari
authors.forename: Dorit
authors.initials: D
authors.lastname: Lev
authors.forename: Marc
authors.initials: M
authors.lastname: Mimouni
authors.forename: Tally
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: D000140:Acidosis, Lactic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics*; D007585:Jews / Q000235:genetics*; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D019071:Persia / Q000208:ethnology; D013577:Syndrome
chemical_list: D006836:Hydro-Lyases; C022479:pseudouridylate synthetase