Mutations in Mitochondrial Carrier Family Gene SLC25A38 Cause Nonsyndromic Autosomal Recessive Congenital Sideroblastic Anemia

Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3.

Abstract

The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblasts--bone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive nonsyndromic congenital sideroblastic anemia, associated with mutations in the gene encoding the erythroid specific mitochondrial carrier family protein SLC25A38, and demonstrate that SLC25A38 is important for the biosynthesis of heme in eukaryotes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Anemia, Sideroblastic / genetics*
  • Animals
  • Carrier State
  • Family
  • Fishes / genetics
  • Heme / biosynthesis
  • Humans
  • Mitochondrial Membrane Transport Proteins / genetics*
  • Mutation*
  • Phenotype
  • Yeasts / genetics

Substances

  • Mitochondrial Membrane Transport Proteins
  • Slc25a38 protein, human
  • Heme