Biochemical study on β-glucosidase in individuals with Gaucher's disease and normal subjects

Abstract Background : Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal β-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the accumulation of glucocerebrosides in macrophage lysosomes. No studies comparing the biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal individuals and patients with Gaucher's disease are available. Methods : We compared the activities of β-glu and chitotriosidase between normal subjects and Gaucher disease patients, and characterized the behavior of β-glu in terms of pH optimum, heat stability, K m and V max . Results : The results showed a different behavior of the enzyme in the groups analyzed. Conclusions : This finding might be useful in cases in which the measurement of enzyme activity alone is not reliable for the establishment of the diagnosis of Gaucher's disease.