摘要: |
扩张型心肌病(DCM)是一组表现为单侧或双侧心腔扩大伴收缩功能障碍的异质性疾病。DCM可归因于遗传和非遗传因素,目前已有40多个致病基因相继被报道,包括编码肌小节、细胞骨架蛋白、离子通道、线粒体、桥粒等的相关基因。近年来,DCM相关致病基因的致病机制研究取得了很大进展,环境、非编码RNA、DNA甲基化、组蛋白乙酰化修饰等对该病表型的影响逐渐受到重视。虽然其基因型和表型的关系仍未完全阐明,但基因型-环境-表型模式机制的探讨使临床对DCM有了更深层次的理解。本文对DCM的遗传学基础、发病机制以及调控机制进行综述。 |
关键词: 扩张型心肌病 遗传学基础 环境 表观遗传学 |
DOI:10.12025/j.issn.1008-6358.2022.20202431 |
分类号:R541 |
基金项目:国家自然科学基金面上项目(82071933),上海市科学技术委员会"科技创新行动计划"基础研究领域项目(20JC1418400). |
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Research progress of dilated cardiomyopathy from genotype to phenotype |
LIU Wen1,2, SHU Xian-hong1,2,3
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1.Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai 200032, China;2.Shanghai Institute of Cardiovascular Disease, Fudan University, Shanghai 200032, China;3.Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
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Abstract: |
Dilated cardiomyopathy (DCM) is a group of heterogeneous diseases characterized by unilateral or bilateral enlargement of the cardiac cavity along with systolic dysfunction. DCM can be attributed to genetic and non-genetic etiologies. More than 40 pathogenic genes have been reported, including genes encoding sarcomere, cytoskeleton protein, ion channel, mitochondria, desmosomes, and so on. In recent years, great progress has been made in the mechanism of pathogenic genes, and the effects of environment, non-coding RNA, DNA methylation, and histone acetylation modification on the phenotype of the disease have been gradually recognized. Although the relationship between genotype and phenotype has not been fully elucidated, the exploration of the molecular mechanism focused on the genome-environment interaction provides clinicians with a deeper understanding of the disease. This review provides an overview of DCM with a focus on their genetic etiology and genome-environment interaction. |
Key words: dilated cardiomyopathy genetics environment epigenetics |