Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

J Lipid Res. 2002 Jul;43(7):1096-104. doi: 10.1194/jlr.m100423-jlr200.

Abstract

Skin fibroblast cultures from patients with inherited lysosomal enzymopathies, alpha-N-acetylgalactosaminidase (alpha-NAGA) and alpha-galactosidase A deficiencies (Schindler and Fabry disease, respectively), and from normal controls were used to study in situ degradation of blood group A and B glycosphingolipids. Glycosphingolipids A-6-2 (GalNAc (alpha 1-->3)[Fuc alpha 1-->2]Gal(beta1-->4)GlcNAc(beta 1-->3)Gal(beta 1--> 4)Glc (beta 1-->1')Cer, IV(2)-alpha-fucosyl-IV(3)-alpha-N-acetylgalactosaminylneolactotetraosylceramide), B-6-2 (Gal(alpha 1-->3)[Fuc alpha 1--> 2] Gal (beta 1-->4)GlcNAc(beta 1-->3)Gal(beta 1-->4)Glc(beta 1-->1')Cer, IV(2)- alpha-fucosyl-IV(3)-alpha-galactosylneolactotetraosylceramide), and globoside (GalNAc(beta 1-->3)Gal(alpha 1-->4)Gal(beta 1-->4)Glc(beta 1-->1') Cer, globotetraosylceramide) were tritium labeled in their ceramide moiety and used as natural substrates. The degradation rate of glycolipid A-6-2 was very low in fibroblasts of all the alpha-NAGA-deficient patients (less than 7% of controls), despite very heterogeneous clinical pictures, ruling out different residual enzyme activities as an explanation for the clinical heterogeneity. Strongly elevated urinary excretion of blood group A glycolipids was detected in one patient with blood group A, secretor status (five times higher than upper limit of controls), in support of the notion that blood group A-active glycolipids may contribute as storage compounds in blood group A patients. When glycolipid B-6-2 was fed to alpha-galactosidase A-deficient cells, the degradation rate was surprisingly high (50% of controls), while that of globotriaosylceramide was reduced to less than 15% of control average, presumably reflecting differences in the lysosomal enzymology of polar glycolipids versus less-polar ones. Relatively high-degree degradation of substrates with alpha-D-Galactosyl moieties hints at a possible contribution of other enzymes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / chemistry*
  • ABO Blood-Group System / metabolism*
  • Adolescent
  • Adult
  • Cell Line
  • Child
  • Child, Preschool
  • Fabry Disease / blood
  • Fabry Disease / enzymology
  • Fabry Disease / metabolism*
  • Fabry Disease / pathology
  • Fibroblasts
  • Glycosphingolipids / blood
  • Glycosphingolipids / metabolism*
  • Glycosphingolipids / urine
  • Hexosaminidases / deficiency
  • Humans
  • Skin
  • alpha-N-Acetylgalactosaminidase

Substances

  • ABO Blood-Group System
  • Glycosphingolipids
  • Hexosaminidases
  • NAGA protein, human
  • alpha-N-Acetylgalactosaminidase