E۱۰۱K and M۱۲۳V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population
Publish place: ARYA Atherosclerosis، Vol: 11، Issue: 5
Publish Year: 1394
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_RYA-11-5_005
تاریخ نمایه سازی: 2 شهریور 1401
Abstract:
BACKGROUND: Cardiomyopathies are myocardial disorders in which the heart muscle is structurally and functionally abnormal. Several mutations in sarcomere protein coding genes are responsible for different types of cardiomyopathies. ACTC۱ is one of the main sarcomere components in heart muscle. Two mutations of E۱۰۱K and M۱۲۳V in this gene are shown to be associated with cardiomyopathies. METHODS: In this case and control study, a sample of contains ۳۰ hypertrophic cardiomyopathy and ۱۰۰ dilated cardiomyopathy patients, as well as ۱۳۰ healthy individuals were screened for two mutations of E۱۰۱K and M۱۲۳V. The genotypes of samples were determined in whole blood genomic DNA by restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR) and mismatched-PCR-RLFP techniques. RESULTS: All patients and healthy peoples had wild type genotype for both locations and even no heterozygous was detected. CONCLUSION: Despite previous reports, no association was observed between both mutations with cardiomyopathy. Our results indicated that two mutations of E۱۰۱K and M۱۲۳V of ACTC۱ gene may are not associated with cardiomyopathy in Iranian population.
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Authors
Asiyeh Jebelli
Department of Genetics, School of Biological Sciences, Tarbiat Modares University, Tehran, Iran
Eshrat Beyranvand
Department of Genetics, School of Biological Sciences, Tarbiat Modares University, Tehran, Iran
Hakimeh Sadeghian
Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran
Mohammad Ali Boroumand
Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran
Mehrdad Behmanesh
Department of Genetics, School of Biological Sciences, Tarbiat Modares University, Tehran, Iran