Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
Center for Heart Lung Innovation - St. Paul's Hospital, University of British Columbia, 1081 Burrard Street, Vancouver, BC, V6Z 1Y6, Canada.
Heart Fail Rev. 2019 Jan;24(1):115-132. doi: 10.1007/s10741-018-9743-7.
Intercalated discs (ICDs) are highly orchestrated structures that connect neighboring cardiomyocytes in the heart. Three major complexes are distinguished in ICD: desmosome, adherens junction (AJ), and gap junction (GJ). Desmosomes are major cell adhesion junctions that anchor cell membrane to the intermediate filament network; AJs connect the actin cytoskeleton of adjacent cells; and gap junctions metabolically and electrically connect the cytoplasm of adjacent cardiomyocytes. All these complexes work as a single unit, the so-called area composita, interdependently rather than individually. Mutation or altered expression of ICD proteins results in various cardiac diseases, such as ARVC (arrhythmogenic right ventricular cardiomyopathy), dilated cardiomyopathy, and hypotrophy cardiomyopathy, eventually leading to heart failure. In this article, we first review the recent findings on the structural organization of ICD and their functions and then focus on the recent advances in molecular pathogenesis of the ICD-related heart diseases, which include two major areas: i) the ICD gene mutations in cardiac diseases, and ii) the involvement of ICD proteins in signal transduction pathways leading to myocardium remodeling and eventual heart failure. These major ICD-related signaling pathways include Wnt/β-catenin pathway, p38 MAPK cascade, Rho-dependent serum response factor (SRF) signaling, calcineurin/NFAT signaling, Hippo kinase cascade, etc., which are differentially regulated in pathological conditions.
连接蛋白(ICD)是高度协调的结构,连接心脏中相邻的心肌细胞。ICD 中有三个主要的复合物:桥粒、黏着连接(AJ)和间隙连接(GJ)。桥粒是将细胞膜锚定到中间丝网络的主要细胞黏附连接;AJ 将相邻细胞的肌动蛋白细胞骨架连接起来;间隙连接在代谢和电上连接相邻心肌细胞的细胞质。所有这些复合物作为一个单一的单元,即所谓的复合区,相互依存而不是独立工作。ICD 蛋白的突变或表达改变会导致各种心脏疾病,如 ARVC(致心律失常性右心室心肌病)、扩张型心肌病和肥厚型心肌病,最终导致心力衰竭。在本文中,我们首先回顾 ICD 的结构组织及其功能的最新发现,然后重点介绍与 ICD 相关的心脏疾病的分子发病机制的最新进展,包括两个主要领域:i)心脏疾病中的 ICD 基因突变,和 ii)ICD 蛋白在导致心肌重构和最终心力衰竭的信号转导途径中的参与。这些主要的 ICD 相关信号通路包括 Wnt/β-catenin 通路、p38 MAPK 级联、Rho 依赖性血清反应因子(SRF)信号通路、钙调神经磷酸酶/NFAT 信号通路、Hippo 激酶级联等,它们在病理条件下受到不同程度的调节。