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首页> 外文期刊>Journal of Cellular Physiology >Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy
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Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy

机译：心脏和骨骼肌表达突变β肌凝蛋白重链,程度的功能损伤和表型异质性肥厚性心肌病

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摘要

Several mutations in distinct genes, all coding for sarcomeric proteins, have been reported in unrelated kindreds with familial hypertrophic cardiomyopathy (FHC). We have identified nine individuals from three families harboring two distinct mutations in one copy of the β-myosin heavy chain (β-MHC) gene. In this study, the expression of the mutant β-myosin protein isoform, isolated from slow-twitch fibers of skeletal muscle, was demonstrated by Northern and Western blot analysis; this myosin showed a decreased in vitro motility activity and produced a lower actin-activated ATPase activity. Isometric tension, measured in single slow-twitch fibers isolated from the affected individuals, also showed a significant decrease. The degree of impairment of β-myosin function, as well as the loss in isometric tension development, were strictly dependent on the amount of the isoform transcribed from the mutated allele. Interestingly, a strong correlation was also demonstrated between mutant β-myosin content and clinical features of FHC. On the other hand, we were unable to detect any correlation between mutant β-myosin expression and degree of cardiac hypertrophy, thereby strengthening the hypothesis that hypertrophy, one of the hallmarks of FHC, might not necessarily be related to the clinical evolution of this disease. These findings lend support to the notion that additional factors rather than the mutated gene may play a pathogenetic role in cardiac wall thickening, whereas the prognosis appears to be strongly related to the amount of mutant protein. J. Cell. Physiol. 227: 3471-3476, 2012.
机译：几个不同的基因突变,所有编码sarcomeric蛋白质,已报告家族与家族性肥厚性无关心肌病(FHC)。两个人从三个家庭庇护不同的突变的一个副本β肌凝蛋白重链β(mhc)基因。表达突变的β肌凝蛋白的蛋白质同种型,从slow-twitch纤维分离的骨骼肌,由北部和演示免疫印迹分析;体外活性的降低和生产活动actin-activated atp酶活性较低。等长张力,以单一slow-twitch纤维分离出受影响的个人,也明显下降。损伤的β肌凝蛋白功能,以及损失等长张力发展,严格依赖于数量的同种型从突变等位基因转录。有趣的是,很强的相关性也证明之间的突变体β肌凝蛋白和内容FHC的临床特征。无法发现任何关系吗突变体β肌凝蛋白表达和程度的心脏肥大,从而加强了假设肥大,FHC的特点之一,可能不一定与临床有关这种疾病的演变。支持认为额外的因素而不是变异的基因会在心脏壁增厚,致病的作用而预后似乎强烈相关的突变蛋白的量。杂志。227:3471 - 3476年,2012年。

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