Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia
DL Guernsey, H Jiang, DR Campagna, SC Evans… - Nature …, 2009 - nature.com
Nature genetics, 2009•nature.com
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 …
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 …
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.
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