Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: An automosal recessive syndrome in persian jews caused by a mutation in the PUS1 gene

Avraham Zeharia, Nathan Fischel-Ghodsian, Kari Casas, Yelena Bykhovskaya, Hana Tamari, Dorit Lev, Marc Mimouni, Tally Lerman-Sagie*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

64 Scopus citations

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.

Original languageEnglish
Pages (from-to)449-452
Number of pages4
JournalJournal of Child Neurology
Volume20
Issue number5
DOIs
StatePublished - May 2005

Funding

FundersFunder number
National Institute on Deafness and Other Communication DisordersR01DC001402

    Fingerprint

    Dive into the research topics of 'Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: An automosal recessive syndrome in persian jews caused by a mutation in the PUS1 gene'. Together they form a unique fingerprint.

    Cite this