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首页> 外文期刊>Journal of Cardiovascular Development and Disease >Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype
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Dystrophic Cardiomyopathy: Complex Pathobiological Processes to Generate Clinical Phenotype

机译：营养不良性心肌病：复杂的病理生物学过程，以产生临床表型。

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Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XL-DCM) consist of a unique clinical entity, the dystrophinopathies, which are due to variable mutations in the dystrophin gene. Dilated cardiomyopathy (DCM) is a common complication of dystrophinopathies, but the onset, progression, and severity of heart disease differ among these subgroups. Extensive molecular genetic studies have been conducted to assess genotype-phenotype correlation in DMD, BMD, and XL-DCM to understand the underlying mechanisms of these diseases, but the results are not always conclusive, suggesting the involvement of complex multi-layers of pathological processes that generate the final clinical phenotype. Dystrophin protein is a part of dystrophin-glycoprotein complex (DGC) that is localized in skeletal muscles, myocardium, smooth muscles, and neuronal tissues. Diversity of cardiac phenotype in dystrophinopathies suggests multiple layers of pathogenetic mechanisms in forming dystrophic cardiomyopathy. In this review article, we review the complex molecular interactions involving the pathogenesis of dystrophic cardiomyopathy, including primary gene mutations and loss of structural integrity, secondary cellular responses, and certain epigenetic and other factors that modulate gene expressions. Involvement of epigenetic gene regulation appears to lead to specific cardiac phenotypes in dystrophic hearts.
机译：Duchenne肌营养不良症（DMD），Becker肌营养不良症（BMD）和X连锁扩张型心肌病（XL-DCM）由肌营养不良症这一独特的临床实体组成，这是由于肌营养不良蛋白基因中的可变突变引起的。扩张型心肌病（DCM）是营养不良症的常见并发症，但这些亚组之间心脏病的发作，进展和严重程度有所不同。已经进行了广泛的分子遗传学研究以评估DMD，BMD和XL-DCM中的基因型-表型相关性，以了解这些疾病的潜在机制，但结果并非总是结论性的，表明涉及复杂的多层病理过程产生最终的临床表型。肌营养不良蛋白是肌营养不良蛋白-糖蛋白复合物（DGC）的一部分，它位于骨骼肌，心肌，平滑肌和神经元组织中。在营养不良性疾病中心脏表型的多样性提示在形成营养不良性心肌病中有多种致病机制。在这篇综述文章中，我们综述了涉及营养不良性心肌病发病机理的复杂分子相互作用，包括一级基因突变和结构完整性的丧失，二级细胞反应以及某些调节基因表达的表观遗传和其他因素。表观遗传基因调控的参与似乎导致营养不良性心脏的特定心脏表型。

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