title: GM1-ganglioside beta-galactosidase in leukocytes and cultured fibroblasts.
abstract: GM1-ganglioside hydrolysis by leukocytes and fibroblasts, tissues easily obtainable from patients, was investigated using 3H-labeled GM1 and was found to be at least as active as that reported for any other tissue. Sodium taurocholate was required for the reaction, the crude bile salt at an optimum concentration of 0.4% producing twice as much activity as pure taurocholate at its optimum concentration of 0.8%. Leukocyte GM1-ganglioside beta-galactosidase and 4-MU-beta-gal cleaving activities were similar, 134.5 +/- 23.3 and 179.8 +/- 25.4 nmol/h/mg protein, respectively. In cultured skin fibroblasts and amniotic fluid cells these enzyme activities were 4 to 5 times higher. Homozygotes for GM1-gangliosidosis showed negligible activity while in heterozygotes the leukocyte GM1-cleaving activity was reduced to one-third of control values. In leukocytes from patients with four other sphingolipid storage diseases the activity was either normal (Krabbe's, Tay-Sachs, Metachromatic leukodystrophy) or increased (adult Gaucher's).
mesh_terms: D000328:Adult; D000818:Animals; D002417:Cattle; D005677:G(M1) Ganglioside / Q000378:metabolism*; D005690:Galactose / Q000031:analogs & derivatives / Q000378:metabolism; D005696:Galactosidases / Q000037:antagonists & inhibitors / Q000378:metabolism*; D005732:Gangliosides / Q000378:metabolism*; D005733:Gangliosidoses / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D012867:Skin / Q000201:enzymology; D013106:Sphingolipidoses / Q000201:enzymology; D013656:Taurocholic Acid / Q000494:pharmacology
chemical_list: D005732:Gangliosides; D005677:G(M1) Ganglioside; D013656:Taurocholic Acid; D005696:Galactosidases; D005690:Galactose