Somatic mutation in paroxysmal nocturnal hemoglobinuria.
The mutation, occurring in a hematopoietic stem cell, creates an erythrocyte clone deficient in proteins capable of blocking complement-mediated lysis. The precise defect lies, however, in the biosynthesis of anchors to tether the proteins. Future research may explain how the clone gains a growth advantage (perhaps shedding light on aplastic anemia). Meanwhile, there remains the challenge of optimal diagnosis and management.
Luzzatto
L
L
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, New York, USA.
D004912:Erythrocytes; D017353:Gene Deletion; D017261:Glycosylphosphatidylinositols / Q000096:biosynthesis / Q000235:genetics*; D006457:Hemoglobinuria, Paroxysmal / Q000150:complications / Q000235:genetics*; D006801:Humans; D007938:Leukemia / Q000209:etiology; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
D017261:Glycosylphosphatidylinositols; D008565:Membrane Proteins; C080086:phosphatidylinositol glycan-class A protein