Biochemical study on beta-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 beta-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 beta-glu and chitotriosidase between normal subjects and Gaucher disease patients, and characterized the behavior of beta-glu in terms of pH optimum, heat stability, Km and Vmax.

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.

• Authors: Kristiane Michelin, Alessandro Wajner, Laureci da S Goulart, Angela A Fachel, Maria Luiza S Pereira, Alexandre S de Mello, Fernanda T S Souza, Ricardo F Pires, Roberto Giugliani, Janice C Coelho
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 343 Issue 1-2 Pg. 145-53 (May 2004) ISSN: 0009-8981 [Print] Netherlands
• PMID: 15115687 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hexosaminidases
• chitotriosidase
• beta-Glucosidase

Topics

• Case-Control Studies
• Cells, Cultured
• Enzyme Stability
• Fibroblasts (enzymology)
• Gaucher Disease (enzymology)
• Hexosaminidases (metabolism)
• Homozygote
• Hot Temperature
• Humans
• Hydrogen-Ion Concentration
• Kinetics
• Leukocytes (enzymology)
• beta-Glucosidase (metabolism)