Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease.
OBJECTIVE
The aim of the present work was to establish the range of chitotriosidase (CT) activity in normal individuals (controls), patients with Gaucher disease (GD), GM1-gangliosidosis (GM1), Krabbe disease (KD) and heterozygotes for Gaucher disease (HG). The kinetics of the enzyme in the five groups was also investigated.


METHODS
Plasma CT activity, as well as Km, Vmax, optimum pH and thermal stability of the enzyme was determined in plasma of controls, GM1, KD, GD and HG subjects.


RESULTS
CT activity in GD, GM1 and KD patients was, respectively, around 600-fold, 15-fold and 12-fold greater than in normal individuals. There was no significant difference between CT activity in the HG and the control group. We also demonstrated that all CT kinetic parameters evaluated (optimum pH, Km, Vmax, thermal stability) in plasma of GD, KD and GM1 patients were significantly different from those of normal individuals. Regarding to thermal stability, our results show that CT activity in the control group was more stable than in the other groups.


CONCLUSIONS
Based on the differences found in the biochemical parameters studied, we presume that the parameters analyzed may be useful in the diagnosis of the Lysosomal Storage Diseases.
Wajner
Alessandro
A
Departamento de Bioquímica, ICBS, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS-Brasil.
Michelin
Kristiane
K
Burin
Maira G
MG
Pires
Ricardo F
RF
Pereira
Maria Luiza S
ML
Giugliani
Roberto
R
Coelho
Janice C
JC
D015415:Biomarkers / Q000097:blood; D016537:Gangliosidosis, GM1 / Q000097:blood*; D005776:Gaucher Disease / Q000097:blood* / Q000235:genetics; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D007965:Leukodystrophy, Globoid Cell / Q000097:blood*
D015415:Biomarkers; D006596:Hexosaminidases; C086400:chitotriosidase