Ontology highlight
ABSTRACT:
SUBMITTER: Schmitz-Abe K
PROVIDER: S-EPMC4683334 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Blood 20151021 25
The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA inherited as an autosomal recessive trait. In a fraction of patients with just 1 severe l ...[more]