Institute of Physiology, Department of Cellular and Translational Physiology, Ruhr-University Bochum, 44801 Bochum, Germany.
Institut für Forschung und Lehre (IFL), Molecular and Experimental Cardiology, St. Josef Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Int J Mol Sci. 2024 Nov 8;25(22):12034. doi: 10.3390/ijms252212034.
Cardiac channelopathies are inherited diseases that increase the risk of sudden cardiac death. While different genes have been associated with inherited channelopathies, there are still subtypes, e.g., catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome, where the genetic cause remains unknown. Various models, including animal models, heterologous expression systems, and the human-induced pluripotent stem-cell-derived cardiomyocytes (hiPSCs-CMs) model, have been used to study the pathophysiological mechanisms of channelopathies. Recently, researchers have focused on using hiPSCs-CMs to understand the genotype-phenotype correlation and screen drugs. By combining innovative techniques such as Clustered Regularly Interspaced Short Palindromic Repeats/Clustered Regularly Interspaced Short Palindromic Repeats associated protein 9 (CRISPR/Cas9)-mediated genome editing, and three-dimensional (3D) engineered heart tissues, we can gain new insights into the pathophysiological mechanisms of channelopathies. This approach holds promise for improving personalized drug treatment. This review highlights the role of hiPSCs-CMs in understanding the pathomechanism of Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia and how these models can be utilized for drug screening.
心脏通道病是一种遗传性疾病,会增加心脏性猝死的风险。虽然已经有不同的基因与遗传性通道病相关,但仍有一些亚型,如儿茶酚胺多形性室性心动过速和 Brugada 综合征,其遗传原因仍不清楚。各种模型,包括动物模型、异源表达系统和人诱导多能干细胞衍生的心肌细胞(hiPSCs-CMs)模型,已被用于研究通道病的病理生理机制。最近,研究人员专注于使用 hiPSCs-CMs 来理解基因型-表型相关性和筛选药物。通过结合创新技术,如规律成簇间隔短回文重复/规律成簇间隔短回文重复相关蛋白 9(CRISPR/Cas9)介导的基因组编辑和三维(3D)工程心脏组织,我们可以深入了解通道病的病理生理机制。这种方法有望改善个性化药物治疗。本文综述了 hiPSCs-CMs 在理解 Brugada 综合征和儿茶酚胺多形性室性心动过速发病机制中的作用,以及这些模型如何用于药物筛选。