Evaluation of serum angiotensin converting enzyme (ACE) activity ‎in type 1 Gaucher's patient and its relationship to ACE gene ‎insertion/deletion in intron 16‎

Gaucher's disease is an autosomal recessive disease which is the result of mutations in ýthe β glucocerebrosidase gene. The aim of this study was to evaluate activity level of ACE enzyme ýIranian patients with Gaucher’s disease type I, and also polymorphism I/D in intron 16ý of ACE gene, as ýa marker in diagnosis and monitoring of disease. ý
ý The experiments were performed on 29 patients (mean age of 10.04 years) ýand 60 healthy subjects (mean age of 7.31 years). Procedures included DNA extraction from blood, ýdetection of polymorphism I/D by PCR and evaluation of activity level of ACE enzyme.ý
ý The mean of ACE activity was 231.07 U/L which was increased 4 times than normal status ýý(56.03 U/L). Evaluation of polymorphism I/D of the 29 patients showed t6 (20.7%) II, 9 (31%) DD and ýý14 (48.3%) ID (p According to the results, the measurement of the ACE activity levels can be used as ýcofactors in diagnosis and as well as an important factor in the monitoring of treatment. Polymorphism ýI/D with respect to the role of the ACE activity can be effective in increasing the specificity of the ýexperiments.ý