Modification of subunit interaction in membrane-bound acid β-glucosidase from Gaucher disease

Abstract

The radiation inactivation method has been used to determine the molecular mass of membrane-bound acid β-glucosidase (EC 3.2.1.21) in situ, in normal human spleen and in that of two patients with type I Gaucher disease: the molecular mass in Gaucher spleen is about double (125 000 ± 8900) of that found in the normal spleen (67 000 ± 7700) which is compatible with the existence of subunit coupling in the muted acid β-glucosidase. From the results, we conclude that subunit interaction is altered in mutant acid β-glucosidase and that this may be due to a direct effect of the mutation.