Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Blood
; 126(25): 2734-8, 2015 Dec 17.
Article
in En
| MEDLINE
| ID: mdl-26491070
ABSTRACT
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 loss-of-function allele, expression of the clinical phenotype is associated with a common coding single nucleotide polymorphism in trans that correlates with reduced messenger RNA expression and results in a pseudodominant pattern of inheritance.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
HSP70 Heat-Shock Proteins
/
Mitochondrial Proteins
/
Genetic Diseases, X-Linked
/
Anemia, Sideroblastic
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
/
Newborn
Language:
En
Journal:
Blood
Year:
2015
Type:
Article