Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
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.
Department of Pathology, Dalhousie University Halifax, Nova Scotia, Canada.
Duane L
DL
Guernsey
Haiyan
H
Jiang
Dean R
DR
Campagna
Susan C
SC
Evans
Meghan
M
Ferguson
Mark D
MD
Kellogg
Mathieu
M
Lachance
Makoto
M
Matsuoka
Mathew
M
Nightingale
Andrea
A
Rideout
Louis
L
Saint-Amant
Paul J
PJ
Schmidt
Andrew
A
Orr
Sylvia S
SS
Bottomley
Mark D
MD
Fleming
Mark
M
Ludman
Sarah
S
Dyack
Conrad V
CV
Fernandez
Mark E
ME
Samuels
D000756:Anemia, Sideroblastic / Q000235:genetics*; D000818:Animals; D002353:Carrier State; D005190:Family; D005399:Fishes / Q000235:genetics; D006418:Heme / Q000096:biosynthesis; D006801:Humans; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015003:Yeasts / Q000235:genetics
D033681:Mitochondrial Membrane Transport Proteins; C553226:Slc25a38 protein, human; D006418:Heme