Multilateral Research on the Mechanisms of Inherited Arrhythmias

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H04818
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Cardiovascular medicine
• Research Institution: Shiga University of Medical Science
• Principal Investigator: Horie Minoru 滋賀医科大学, 医学部, 教授 (90183938)
• Co-Investigator(Kenkyū-buntansha): 大野 聖子 滋賀医科大学, 学内共同利用施設等, 特任講師 (20610025) ; 伊藤 英樹 滋賀医科大学, 医学部, 助教 (30402738) ; 牧山 武 京都大学, 医学研究科, 助教 (30528302) ; 林 秀樹 滋賀医科大学, 医学部, 非常勤講師 (70464188) ; 芦原 貴司 滋賀医科大学, 医学部, 講師 (80396259)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 遺伝性不整脈 / 循環器 / 高血圧 / 遺伝学 / 遺伝子 / 機能解析

Outline of Final Research Achievements

Variants of genes encoding a variety of ion channels or their associated proteins, determining the heart impulse conduction, excitation and contraction, were found to cause inherited arrhythmias, such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, progressive cardiac conduction defect, and short QT syndrome. This line of study offered a typical example that the scientific progress in genetics prompted the discovery of new genes responsible for human diseases and elucidated their specific molecular mechanisms of pathogenicity. By employing the multilateral approaches such as conventional patch-clamp and other physiological analyses in a heterologous expression system, patients-derived iPS-cardiomyocytes, and integrated computer simulation method, we investigated the pathological mechanisms underlying these inherited arrhythmias.

Free Research Field

循環器内科学