Development of a safe and high-throughput diagnosis protocol for long QT syndrome by using iPS cells.

2016 Fiscal Year Final Research Report

• Project/Area Number: 26461607
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Kyoto University
• Principal Investigator: Shiro Baba 京都大学, 医学研究科, 助教 (60432382)
• Research Collaborator: YOSHINAGA Daisuke 京都大学, 医学部附属病院 小児科, 医員
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: QT延長症候群 / iPS細胞 / 新規診断方法

Outline of Final Research Achievements

Long QT syndrome (LQTS) is caused by hereditary cardiac channelopathies characterized by prolonged QT interval on an electrocardiogram. LQTS may precipitate malignant arrhythmia, resulting in syncope and sudden death. Genetic testing is currently utilized to assist treatment selection and prognostication with limited success. The predicted phenotype of the genetic abnormality often does not match the clinical phenotype due to low penetrance and variable expressivity of the syndrome.
we used LQTS patient-specific induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) and multi-electrode array (MEA) as a diagnostic platform for high-throughput in vitro phenotype screening. From our experimental results, a diagnosis protocol using iPSC-CM and MEA system may enable evaluation of channelopathies more accurately than genetic testing alone and to avoid ethical problems arising from revealing individual genes.

Free Research Field

小児循環器学