RESUMO
Background: Gaucher's disease is an autosomal recessive disease which is the result of mutations in the P glucocerebrosidase gene. The aim of this study was to evaluate activity level of ACE enzyme Iranian patients with Gaucher's disease type I, and also polymorphism I/D in intron 16 of ACE gene, as a marker in diagnosis and monitoring of disease
Materials and methods: The experiments were performed on 29 patients [mean age of 10.04 years] and 60 healthy subjects [mean age of 7.31 years]. Procedures included DNA extraction from blood, detection of polymorphism I/D by PCR and evaluation of activity level of ACE enzyme
Results: The mean of ACE activity was 231.07 U/L which was increased 4 times than normal status [56.03 U/L]. Evaluation of polymorphism I/D of the 29 patients showed t6 [20.7%] II, 9 [31%] DD and 14[48.3%]ID[p<0.05]
Conclusion: According to the results, the measurement of the ACE activity levels can be used as cofactors in diagnosis and as well as an important factor in the monitoring of treatment. Polymorphism I/D with respect to the role of the ACE activity can be effective in increasing the specificity of the experiments