Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.
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.
Michelin
Kristiane
K
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-003, Brazil.
Wajner
Alessandro
A
Goulart
Laureci da S
Lda S
Fachel
Angela A
AA
Pereira
Maria Luiza S
ML
de Mello
Alexandre S
AS
Souza
Fernanda T S
FT
Pires
Ricardo F
RF
Giugliani
Roberto
R
Coelho
Janice C
JC
D016022:Case-Control Studies; D002478:Cells, Cultured; D004795:Enzyme Stability; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000201:enzymology*; D006596:Hexosaminidases / Q000378:metabolism; D006720:Homozygote; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology; D001617:beta-Glucosidase / Q000378:metabolism*
D006596:Hexosaminidases; C086400:chitotriosidase; D001617:beta-Glucosidase