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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی P-19: Detecting of the P32T Mutant ITPase in Patients Affected by Hypertrophic Cardiomyopathy
چکیده انگلیسی مقاله Objective: Hypertrophic cardiomyopathy (HCM) is a disease of the heart muscle and its characteristic is marked thickening of the left ventricular wall in the absence of increased external load. HCM is one of the most common genetically studied cardiovascular diseases but the main genes involved in it’s pathogenesis is not determined yet. HCM is the prevalent in approximately in 1 of 500 of the population. It has been shown that cardiomyopathy, which is mainly caused by mutations of sarcomeric protein encoding genes, is also appeared in Itpa null mice. The sytosolic enzyme ITPase encoded by ITPA gene, exclude noncanonical nucleoside triphosphates (NTPs) such as dITP and dXTP from NTP pools, by hydrolyzing them to the corresponding purine nucleotide monophosphate and pyrophosphate. The ITPA 94 C>A [P32T] variant is one of two polymorphisms associated with decreased ITPase activity. Biochemical assays indicates that its activity was lost in individuals homozygous for the P32T mutation, and it was reduced 25% in heterozygous subjects compared with wild-type ITPase. Materials and Methods: In order to study the expression level of ITPA gene by Real-time RT-PCR technique, peripheral blood samples were collected from 30 subjects affected with HCM and 30 healthy individuals. All subjected were diagnosed with echocardiography by a specialist. Results: After analysis of raw data using 2-ΔΔCT method, It was found that there isn’t any significant differences in the ITPA gene expression in the patient group in comparison with control group. The ORF sequence analysis of ITPA gene showed the P32T mutation in 30% of patients
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1551
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