Contribution of Genetic Factors to the Pathogenesis of Dilated Cardiomyopathy - The Cause of Dilated Cardiomyopathy: Genetic or Acquired? (Genetic-Side)
Contribution of Genetic Factors to the Pathogenesis of Dilated Cardiomyopathy - The Cause of Dilated Cardiomyopathy: Genetic or Acquired? (Genetic-Side)
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DOI：
10.1253/circj.cj-11-0368
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发表时间：
2011-07-01
影响因子：
3.3
通讯作者：
Kimura, Akinori
中科院分区：
文献类型：
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作者：
Kimura, Akinori
扩张型心肌病（DCM）的特征是心室扩张和收缩功能障碍。其病因尚未完全阐明，但外在和内在因素都被认为是参与。内在因素包括基因的遗传变异（即，致病突变和疾病相关多态性），其通过影响心脏功能的表现、调节和/或维持在控制疾病易感性方面发挥关键作用。DCM可分为遗传性和非遗传性两种类型。导致遗传性DCM发病的遗传变异或致病突变可在各种基因中发现，特别是心肌细胞的肌膜元件、收缩元件、Z盘元件、肌浆元件和核纤层元件的基因。另一方面，控制非遗传性DCM易感性的疾病相关多态性可能不仅存在于心肌细胞中，也存在于参与免疫系统的其他非心肌细胞中。由于这些遗传变异引起的功能改变可以分为几类，因此有必要了解发病机制，并从遗传因素的角度为遗传性和非遗传性DCM制定诊断和治疗策略。(Circ J 2011; 75：1756-1765）
Dilated cardiomyopathy (DCM) is characterized by dilated ventricles and systolic dysfunction. Its etiology is not fully unraveled, but both extrinsic and intrinsic factors are considered to be involved. The intrinsic factors include genetic variations in the genes (ie, disease-causing mutations and disease-associated polymorphisms), which play key roles in controlling the susceptibility to the disease by affecting the performance, regulation, and/or maintenance of cardiac function. DCM can be classified into 2 types: hereditary and non-hereditary. The genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM can be found in various genes, especially those for sarcolemma elements, contractile elements, Z-disc elements, sarcoplasmic elements, and nuclear lamina elements of cardiomyocytes. On the other hand, disease-associated polymorphisms, which control the susceptibility to non-hereditary DCM, may be found in genes expressing not only in cardiomyocytes but also other non-cardiac cells involved in the immune system. Because functional alterations caused by these genetic variations can be classified into several categories, it is necessary to understand the pathogenesis and hence to develop diagnostic and therapeutic strategies for both hereditary and non-hereditary DCM from the viewpoint of genetic factors. (Circ J 2011; 75: 1756-1765)