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首页> 外文期刊>Clinical and investigative medicine: Medecine clinique et experimentale >The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy.
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The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy.

机译:心律失常性右室发育不良-心肌病的分子遗传学。

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摘要

Arrhythmogenic right ventricular dysplasia or cardiomyopathy (ARVD or ARVC) is an inherited disorder characterized by replacement of the right ventricular myocardium by adipose and fibrous tissue and associated with sudden cardiac death. This disorder may be as prevalent as 6 in 10 000 and causes 12.5%-25% of sudden death events in the young. Nine genetic loci associated with this disease have been ascertained, and mutations in genes at 3 loci have been discovered. These genetic studies have shed light on some of the pathogenetic mechanisms. Mutations in genes encoding desmoplakin and plakoglobin suggest that altered integrity at cardiac myocyte cell-cell junctions may promote myocyte degeneration and death, with the repair process consisting of replacement of myocardium by adipose and fibrous tissue. Mutations in the gene encoding the cardiac ryanodine receptor suggest that cytoplasmic calcium overloading may lead to arrhythmias characteristic of ARVD, and perhaps also the structural changes. Many of the remaining questions concerning the pathogenesis of ARVD can be answered only by the mapping and identification of other genes associated with this disease.
机译:心律失常性右心室发育不良或心肌病(ARVD或ARVC)是一种遗传性疾病,其特征是脂肪和纤维组织替代了右心室心肌,并伴有心源性猝死。这种疾病的发病率可能高达万分之六,导致年轻人猝死事件的12.5%-25%。已经确定了与该疾病相关的9个遗传基因座,并且已经发现了3个基因座的基因突变。这些遗传学研究揭示了一些致病机理。编码desmoplakin和plakoglobin的基因中的突变表明,心肌细胞与细胞之间连接处完整性的改变可能促进心肌细胞的变性和死亡,其修复过程包括由脂肪和纤维组织替代心肌。编码心脏ryanodine受体的基因中的突变表明,胞质钙超载可能导致ARVD的心律失常,甚至可能导致结构改变。关于ARVD发病机理的许多其他问题只能通过对与该疾病相关的其他基因进行定位和鉴定来回答。

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