Isolation and characterization of poly-N-acetyllactosaminylceramides accumulated in the erythrocytes of congenital dyserythropoietic anemia type II patients.
Congenital dyserythropoietic anemia type II or hereditary erythroblastic polynuclearity with positive acidified serum test (HEMPAS) is a rare genetic disease inherited by a recessive mode. Previous studies on HEMPAS erythrocytes have shown that Band 3 and Band 4.5 glycoproteins were not glycosylated by lactosaminoglycans, while polylactosaminyl carbohydrates are accumulated as glycolipids (P. Scartezzini et al., Br J. Haematol., 51 (1982) 569; M.N. Fukuda et al., Br. J. Haematol., 56 (1984)55). Presently, we have isolated polylactosaminyl lipids from HEMPAS blood cells and analyzed their structures by fast atom bombardment-mass spectrometry (FAB-MS), methylation analysis, endo-beta-galactosidase digestion. The results indicate that polylactosaminyl lipids accumulated in HEMPAS erythrocytes are a species of poly-N-acetyllactosaminylceramides which are also present in normal erythrocytes, but at 7 approximately 9 times lower level. Isolated polylactosaminylceramides exhibit I-, i-, H- and Lex antigenic activities which suggest that the polylactosaminylceramides are derived from both erythrocytes and granulocytes.
D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood*; D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D000941:Antigens / Q000276:immunology; D001789:Blood Group Antigens / Q000276:immunology; D002851:Chromatography, High Pressure Liquid; D004912:Erythrocytes / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry; D006028:Glycosphingolipids / Q000097:blood*; D006801:Humans; D007790:Lactosylceramides / Q000097:blood* / Q000276:immunology; D011134:Polysaccharides / Q000138:chemical synthesis* / Q000276:immunology
D000941:Antigens; D001789:Blood Group Antigens; D006028:Glycosphingolipids; D007790:Lactosylceramides; D011134:Polysaccharides; C037199:poly-N-acetyllactosamine