Development of new treatment and prevention strategy of heart failure based on novel pathogenesis of genetic cardiomyopathy.

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460407
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: Hayashi Takeharu 東京医科歯科大学, 難治疾患研究所, 准教授 (90287186)
• Co-Investigator(Kenkyū-buntansha): 木村 彰方 東京医科歯科大学, 難治疾患研究所, 教授 (60161551)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 心筋症 / 遺伝子

Outline of Final Research Achievements

(1)Using next-generation sequence (NGS) systems, we analyzed 67 cardiomyopathy-associated genes for various types of cardiomyopathy patients. Out of those, pediatric hypertrophic cardiomyopathy (HCM) patients who was high risk group of sudden cardiac death identified the mutations at high rate for not only familial but non-familial cases. Furthermore, novel homozygous desmin gene mutation was found in pediatric HCM. (2) Novel gene X mutation have been found in large HCM family with whole exome sequence. Some different mutations of gene X were found in HCM. (3) Also, novel gene A mutations associated with cardiomyopathy were found. Deletion and missense mutations of gene A were respectively identified in dilated cardiomyopathy (DCM) and HCM. Now we investigate the role of gene X and A for developing cardiomyopathy.

Free Research Field

人類遺伝学　循環器内科学　内科学　細胞生物学