[Mutations in the PIG-A gene lead to GPI-deficiency in paroxysmal nocturnal hemoglobinuria].
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the deficiency of glycosylphosphatidylinositol-(GPI-)-anchored surface molecules on blood cells. The biochemical basis of this deficiency is the lack of the first GPI biosynthesis intermediate GlcNAc-PI in the deficient cells corresponding to that in Thy-1- mouse lymphoma mutants of the class A. Recently, the responsible gene (PIG-A gene) has been cloned. Here, PIG-A transcripts in T-, NK- and EBV-transformed B cell lines of different PNH patients have been analyzed. In contrast to the uniform biochemical defect, these molecular analyses reveal heterogenous mutations of the PIG-A gene in different PNH patients.
Ostendorf
T
T
Abteilung Immunologie und Transfusionsmedizin, Medizinischen Hochschule Hannover.
Schubert
J
J
Schmidt
R E
RE
D017261:Glycosylphosphatidylinositols / Q000378:metabolism*; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D012333:RNA, Messenger / Q000235:genetics
D017261:Glycosylphosphatidylinositols; D008565:Membrane Proteins; D012333:RNA, Messenger; C080086:phosphatidylinositol glycan-class A protein
Mutationen im PIG-A-Gen führen zur GPI-Defizienz bei der paroxysmalen nächtlichen Hämoglobinurie.