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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
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Morteza Ghazanfari Jajin1   , Shohreh Khatami2 , Hadi Mozafari3 , Abolfazl Fateh4 , Maryam Mobaraki5 , Mohammad Taghikhani 6 |
1- Biochemistry Department, Tarbiat Modares University, Tehran, Iran
2- Biochemistry Department, Pasteur Institute of Iran, Tehran, Iran
3- Biochemistry Department, Kermanshah University of Medical Sciences, Kermanshah, Iran
4- Bacteriology Research Group and Microbiology Research Center (MRC), Pasteur Institute of Iran, Tehran, Iran
5- Bacteriology Research Group and Microbiology Research Center (MRC), Pasteur Institute of Iran, Tehran, Iran
6- Bacteriology Research Group, Pasteur Institute of Iran, Tehran, Iran |
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Abstract: (4993 Views) |
| Background: Gaucher's disease is an autosomal recessive disease which is the result of mutations in the β 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.
Keywords: Gaucher's disease, Angiotensin converting enzyme (ACE), β- glucocerebrosidase, Polymorphism I/D. |
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| Keywords: Gaucher's disease, Angiotensin converting enzyme (ACE), β- glucocerebrosidase, Polymorphism I/D. |
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Full-Text [PDF 298 kb]
(1894 Downloads)
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Semi-pilot: Survey/Cross Sectional/Descriptive |
Subject:
Cilinical Biochemistry
Received: 2016/12/25 | Accepted: 2017/02/25 | Published: 2017/06/19
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