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

• 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
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 心筋症 / 遺伝子 / 遺伝子解析

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.

Research Products

• [Journal Article] Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and Zebra body (2016)
  • Author(s): Oikawa M, Sakamoto N, Kobayashi A, Suzuki A, Yoshihisa A. Yamaki T, Nakazato K, Suzuki H, Saitoh S, Kiko Y, Nakano H, Hayashi T, Kimura A, Takeishi Y
  • Journal Title: BMC Cardiovasc Disord. Volume: 16 Issue: 1 Pages: 83-83
  • DOI: 10.1186/s12872-016-0262-y
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations. (2015)
  • Author(s): Kadota C, Arimura T, Hayashi T, Naruse TK, Kawai S, Kimura A
  • Journal Title: Journal of human genetics Volume: 60 Issue: 10 Pages: 641-645
  • DOI: 10.1038/jhg.2015.81
  • NAID: 40020621514
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Development of personalized medicine and therapy for cardiomyopathy based on the pathogensis: Identification of novel disease causative gene by comprehensive mutation analysis. (2014)
  • Author(s): Hayashi T, Kimura A
  • Journal Title: Journal of Seizon and Life Science Volume: 25 Pages: 221-227
• [Presentation] Genetic analysis of hypertrophic cardiomyopathy with mid-ventricular obstruction phenotype. (2017)
  • Author(s): Inagaki N, Hayashi T, Takei Y, Chikamori T, Yamashina A、Kimura A.
  • Organizer: 第81回日本循環器学会
  • Place of Presentation: 石川県立音楽堂 金沢県金沢市
  • Year and Date: 2017-03-18
• [Presentation] 若年、小児発症の肥大型及び拘束型心筋症の原因遺伝子解析 (2016)
  • Author(s): 林 丈晴、谷本幸介、木村彰方.
  • Organizer: 第２回 日本心筋症研究会
  • Place of Presentation: まつもと市民芸術館 長野県松本市
  • Year and Date: 2016-05-14
• [Presentation] 若年及び小児の肥大型、拘束型心筋症の遺伝子変異解析 (2015)
  • Author(s): 林丈晴、谷本幸介、木村彰方
  • Organizer: 第60回日本人類遺伝学会
  • Place of Presentation: 京王プラザホテル、東京都新宿区
  • Year and Date: 2015-10-15
• [Presentation] 心室中部閉塞型肥大型心筋症の病因変異探索 (2015)
  • Author(s): 稲垣夏子、林丈晴、武井康悦、近森大志郎、山科章、木村彰方
  • Organizer: 第60回日本人類遺伝学会
  • Place of Presentation: 京王プラザホテル、東京都新宿区
  • Year and Date: 2015-10-15
• [Presentation] 心筋症の遺伝子解析の現状 (2015)
  • Author(s): 林丈晴、谷本幸介、木村彰方
  • Organizer: 第１回日本心筋症研究会
  • Place of Presentation: 一橋講堂、東京都千代田区
  • Year and Date: 2015-07-04
  • Invited
• [Presentation] 心室中部閉塞型肥大型心筋症の病因変異探索 (2015)
  • Author(s): 稲垣夏子, 林丈晴, 武井康悦, 近森大志郎, 山科章, 木村彰方
  • Organizer: 第１回日本心筋症研究会
  • Place of Presentation: 一橋講堂、東京都千代田区
  • Year and Date: 2015-07-04
• [Presentation] 遺伝性心筋症変異スクリーニングシステムの構築 (2014)
  • Author(s): 林丈晴、谷本幸介、木村彰方.
  • Organizer: 日本人類遺伝学会第59回大会
  • Place of Presentation: タワーホール船堀, 東京
  • Year and Date: 2014-11-20
• [Presentation] 心室中部閉塞型肥大型心筋症の病因変異探索 (2014)
  • Author(s): 稲垣夏子、林丈晴、武井康悦、近森大志郎、谷本幸介、山科章、木村彰方
  • Organizer: 日本人類遺伝学会第59回大会
  • Place of Presentation: タワーホール船堀 ,東京都
  • Year and Date: 2014-11-20
• [Remarks] 東京医科歯科大学研究情報データベース
  • URL: http://reins.tmd.ac.jp/html/100007822_ja.html