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首页> 外文期刊>Indian Journal of Human Genetics >Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy
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Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy

机译：肥厚型心肌病和扩张型心肌病中β-MYH7的遗传变异

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CONTEXT: Hypertrophic cardiomyopathy (HCM) is known to be manifested by mutations in 12 sarcomeric genes and dilated cardiomyopathy (DCM) is known to manifest due to cytoskeletal mutations. Studies have revealed that sarcomeric mutations can also lead to DCM. Therefore, in the present study, we have made an attempt to compare and analyze the genetic variations of beta-myosin heavy chain gene (β-MYH7), which are interestingly found to be common in both HCM and DCM. The underlying pathophysiological mechanism leading to two different phenotypes has been discussed in this study. Till date, about 186 and 73 different mutations have been reported in HCM and DCM, respectively, with respect to this gene. AIM: The screening of β-MYH7 gene in both HCM and DCM has revealed some common genetic variations. The aim of the present study is to understand the pathophysiological mechanism underlying the manifestation of two different phenotypes. MATERIALS AND METHODS: 100 controls, 95 HCM and 97 DCM samples were collected. Genomic DNA was extracted following rapid nonenzymatic method as described by Lahiri and Nurnberger (1991), and the extracted DNA was later subjected to polymerase chain reaction (PCR) based single stranded conformation polymorphism (SSCP) analysis to identify single nucleotide polymorphism (SNP)s/mutations associated with the diseased phenotypes. RESULTS AND CONCLUSION: Similar variations were observed in β-MYH7 exons 7, 12, 19 and 20 in both HCM and DCM. This could be attributed to impaired energy compromise, or to dose effect of the mutant protein, or to even environmental factors/modifier gene effects wherein an HCM could progress to a DCM phenotype affecting both right and left ventricles, leading to heart failure.
机译：背景：肥大型心肌病（HCM）已知通过12个肌节基因的突变表现出来，而扩张型心肌病（DCM）则由于细胞骨架突变而表现出来。研究表明，肌节突变也可导致DCM。因此，在本研究中，我们已经尝试比较和分析β-肌球蛋白重链基因（β-MYH7）的遗传变异，有趣的是，它们在HCM和DCM中都是常见的。在这项研究中讨论了导致两种不同表型的潜在病理生理机制。迄今为止，已经针对该基因在HCM和DCM中分别报道了约186和73种不同的突变。目的：在HCM和DCM中对β-MYH7基因的筛选揭示了一些常见的遗传变异。本研究的目的是了解两种不同表型的表现基础的病理生理机制。材料与方法：收集100份对照，95份HCM和97份DCM样品。按照Lahiri和Nurnberger（1991）所述的快速非酶法提取基因组DNA，然后对提取的DNA进行基于聚合酶链反应（PCR）的单链构象多态性（SSCP）分析，以鉴定单核苷酸多态性（SNP）。与患病表型相关的突变。结果与结论：在HCM和DCM中，β-MYH7外显子7、12、19和20均观察到相似的变化。这可能归因于能量受损，或突变蛋白的剂量效应，甚至归因于环境因素/修饰基因效应，其中HCM可能发展为影响右心室和左心室的DCM表型，从而导致心力衰竭。

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