Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Am J Hum Genet
; 93(5): 906-14, 2013 Nov 07.
Article
en En
| MEDLINE
| ID: mdl-24119684
ABSTRACT
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Mitocondriales
/
Anemia Macrocítica
/
Proteínas de la Membrana
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Animals
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Child
/
Female
/
Humans
Idioma:
En
Revista:
Am J Hum Genet
Año:
2013
Tipo del documento:
Article
País de afiliación:
Estados Unidos