E101K和M123Vα-心肌肌动蛋白基因突变与伊朗人群的心肌病无关。
E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population.
作者信息
Jebelli Asiyeh, Beyranvand Eshrat, Sadeghian Hakimeh, Boroumand Mohammad Ali, Behmanesh Mehrdad
机构信息
Department of Genetics, School of Biological Sciences, Tarbiat Modares University, Tehran, Iran.
Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
ARYA Atheroscler. 2015 Sep;11(5):289-94.
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. ACTC1 is one of the main sarcomere components in heart muscle. Two mutations of E101K and M123V in this gene are shown to be associated with cardiomyopathies.
METHODS
In this case and control study, a sample of contains 30 hypertrophic cardiomyopathy and 100 dilated cardiomyopathy patients, as well as 130 healthy individuals were screened for two mutations of E101K and M123V. 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 E101K and M123V of ACTC1 gene may are not associated with cardiomyopathy in Iranian population.
背景
心肌病是指心肌在结构和功能上出现异常的心肌疾病。肌节蛋白编码基因中的几种突变与不同类型的心肌病有关。ACTC1是心肌中主要的肌节成分之一。该基因的E101K和M123V两种突变被证明与心肌病有关。
方法
在这项病例对照研究中，对30例肥厚型心肌病患者、100例扩张型心肌病患者以及130名健康个体的样本进行E101K和M123V两种突变的筛查。通过限制性片段长度多态性聚合酶链反应（RFLP-PCR）和错配-PCR-RLFP技术在全血基因组DNA中确定样本的基因型。
结果
所有患者和健康人均在这两个位点具有野生型基因型，甚至未检测到杂合子。
结论
尽管有先前的报道，但未观察到这两种突变与心肌病之间存在关联。我们的结果表明，ACTC1基因的E101K和M123V两种突变可能与伊朗人群的心肌病无关。
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