ELECTROFOCUSING SEPARATION OF MOLECULAR-FORMS OF SPLENIC BETA-GLUCOSIDASE IN NORMAL SUBJECT AND GAUCHERS-DISEASE

  • 1 January 1980
    • journal article
    • research article
    • Vol. 33  (3) , 82-86
Abstract
Electrofocusing allows the separation of the .beta.-glucosidases from normal spleen into several molecular forms: a non-specific .beta.-glucosidase form (pI [isoelectric point] 4.6) and 2 forms of .beta.-glucocerebrosidase (pI 5.0 and pI 6.5). .beta.-glucosidase and .beta.-glucocerebrosidase differ with regard to their thermal stability. In a spleen from a patient with non-neuronopathic Gaucher''s disease (type I or adult form), molecular forms of .beta.-glucocerebrosidase are only deficient, whereas the non-specific .beta.-glucosidase is not significantly decreased. The .beta.-glucocerebrosidase forms and the non-specific .beta.-glucosidase are not coded by the same gene. The separation of molecular forms of .beta.-glucosidases allows the measurement of the part of the specific .beta.-glucosidase activity in the assay of .beta.-glucocerebrosidase by the artificial substrate, 4-methylumbelliferyl-.beta.-D-glucopyranoside.