Genetic heterogeneity of membrane-bound beta-glucosidase in Gaucher's disease

J Inherit Metab Dis. 1981;4(1):11-3. doi: 10.1007/BF02263575.

Abstract

Membrane-bound beta-glucosidase of leukocytes exists in two forms, one with optimal activity at about pH 4.5, whereas the other is most active at pH 5.5-6.0. In one case of type 1 (adult) Gaucher's disease, the pH 4.5 activity was totally deficient, but the pH 5.5 activity was present in normal amounts; obligate heterozygotes had half the normal activity at pH 4.5. In two different cases, the membrane-bound beta-glucosidase was completely absent when assayed at either pH 4.5 or pH 5.5. Two further cases had residual activity at both ph values; however, the residual enzymes had different thermostability properties than the corresponding enzymes of control leukocytes. The results are consistent with the existence of at least three genetic variants of type 1 (adult) Gaucher's disease.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Membrane / enzymology
  • Gaucher Disease / enzymology*
  • Glucosidases / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Isoenzymes / blood
  • Isoenzymes / genetics
  • Kinetics
  • Leukocytes / enzymology*
  • beta-Glucosidase / blood
  • beta-Glucosidase / genetics*

Substances

  • Isoenzymes
  • Glucosidases
  • beta-Glucosidase