Mutational analysis of disease causing gene in sudden death cases with cardiomyopathy or cardiac hypertrophy

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K19276
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Legal medicine
• Research Institution: Kagoshima University (2016-2017); Kitasato University (2015)
• Principal Investigator: Maeda Kazuho 鹿児島大学, 医歯学域医学系, 助教 (40724761)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 拡張型心筋症 / 肥大型心筋症 / 心臓性突然死 / 遺伝子解析 / サイファー遺伝子 / RNA結合モチーフ蛋白遺伝子

Outline of Final Research Achievements

We performed comprehensive genetic analysis of genes that would cause dilated cardiomyopathy (DCM) in sudden death with cardiomyopathies or concentric/dilatation hypertrophy. DCM-associated mutation was detected from one HCM case in LDB3 and other HCM case in RBM20. These HCM cases also had a mutation associated with HCM in other gene. In addition, a novel mutation was detected from one concentric hypertrophy case in RBM20. This mutation was located near to the mutation associated with HCM. These results suggested that multiple gene mutations associated with each cardiomyopathy would exacerbate cardiac function and RBM20 might be not only as DCM-causing gene but also as HCM-causing gene. Further investigation using more postmortem samples is need for proving this hypothesis and elucidating the molecular mechanism in the onset of cardiomyopathy.

Free Research Field

法医学