Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
Defect in degradation of blood group B-immunoactive glycosphingolipids in Fabry disease (deficiency of lysosomal alpha-galactosidase EC 3.2.1.22) has been studied using highly sensitive and specific TLC-immunostaining analysis of urinary sediments and tonsillar tissues of blood group B patients and healthy controls, secretors and nonsecretors. The B glycolipid antigens with hexasaccharide chains were consistently found increased (25- to 100-fold) in the urinary sediments of three Fabry patients, blood group B or AB secretors. Conversely, they were absent in the urinary sediment of one blood group B nonsecretor patient. In normal secretors, B glycosphingolipids were present only in traces. Moreover, significant increase in B glycolipid antigens (8-fold) was found in the tonsillar tissue of a Fabry patient blood group B secretor. We conclude that the secretor status is responsible for increased concentration of blood group B glycosphingolipids in both urinary cells and tonsils in alpha-galactosidase deficiency. The quantity of stored B-immunoactive glycosphingolipids, however, is much lower than that of the mainly accumulated glycosphingolipid Gb(3)Cer. The results clearly indicate that active or silent Se gene, which controls synthesis of B-antigen precursors, is responsible for notable difference in B-glycosphingolipids expression in Fabry patients - secretors and nonsecretors. Whether this novel aspect may be of prognostic significance, remains to be established.
Ledvinová
J
J
Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Poupetová
H
H
Hanácková
A
A
Písacka
M
M
Elleder
M
M
D000017:ABO Blood-Group System / Q000097:blood / Q000652:urine; D000328:Adult; D000818:Animals; D000911:Antibodies, Monoclonal / Q000276:immunology; D002855:Chromatography, Thin Layer; D000795:Fabry Disease / Q000097:blood* / Q000652:urine; D006028:Glycosphingolipids / Q000032:analysis* / Q000737:chemistry / Q000276:immunology / Q000378:metabolism; D006801:Humans; D016030:Kidney Transplantation; D051379:Mice; D014066:Palatine Tonsil / Q000737:chemistry; D012016:Reference Values; D013997:Time Factors
D000017:ABO Blood-Group System; D000911:Antibodies, Monoclonal; D006028:Glycosphingolipids