Immunological and isoelectric focusing study of beta-glucocerebrosidase from normal and Gaucher disease.

Comparison of normal and Gaucher disease beta-glucocerebrosidase by agarose isoelectric focusing (IEF) demonstrated additional bands at the pI-6 area seen within the mutated enzyme, while both normal placenta and spleen enzyme preparations manifest only major activity at pI-5. Antiglucocerebrosidase antibodies precipitated both normal and pathological enzymes, however, more antibodies were needed to reach an equivalence with the normal enzymes than with the Gaucher's. Cross reactivity of the IEF isozymes were detected by direct immunodiffusion on the prefocused gel.