Research of the tailor-maid treatment of hypertrophic and dilated cardiomyopathy by comprehensive genetic analysis

2012 Fiscal Year Final Research Report

• Project/Area Number: 22590808
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Circulatory organs internal medicine
• Research Institution: Kanazawa University
• Principal Investigator: FUJINO Noboru 金沢大学, 保健学系, 准教授 (40361993)
• Co-Investigator(Kenkyū-buntansha): HAYASHI Kenshi 金沢大学, 大学病院, 助教 (00422642) ; YAMAGISHI Masakazu 金沢大学, 医学系, 教授 (70393238)
• Project Period (FY): 2010 – 2012
• Keywords: 肥大型心筋症 / 収縮不全 / 拡張型心筋症 / 遺伝子 / 遺伝学 / 循環器 / 高血圧

Research Abstract

The study included 157 sarcomere gene mutation carriers, and 107 subjects underwent serial echocardiograms. At a mean follow-up of 7 years, 12 subjects experienced systolic dysfunction. When the subjects were divided into MYBPC3 and non-MYBPC3 mutation carriers, the rate of systolic dysfunction was higher in the non-MYBPC3 group than in MYBPC3 group.

Research Products

• [Journal Article] Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy (2013)
  • Author(s): Fujino N, Konno T, Hayashi K, Hodatsu A, Fujita T, Tsuda T, Nagata Y, Kawashiri MA, Ino H, Yamagishi M
  • Journal Title: Clin Cardiol Volume: 36 Pages: 160-165
  • DOI: DOI:10.1002/clc.22082
  • Peer Reviewed
• [Journal Article] A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome (2013)
  • Author(s): Liu L, Hayashi K, Kaneda T, Ino H, Fujino N, Uchiyama K, Konno T, Tsuda T, Kawashiri MA, Ueda K, Higashikata T, Shuai W, Kupershmidt S, Higashida H, Yamagishi M
  • Journal Title: Heart Rhythm Volume: 10 Pages: 61-67
  • DOI: DOI:10.1016/j.hrthm.2012.09.053
  • Peer Reviewed
• [Journal Article] Multiple noncoding exons 1 of nuclear receptors NR4A family (nerve growth factor-induced clone B (2011)
  • Author(s): Demura M, Wang F, Yoneda T, Karashima S, Mori S, Oe M, Kometani M, Sawamura T, Cheng Y, Maeda Y, Namiki M, Ino H, Fujino N, Uchiyama K, Tsubokawa T, Yamagishi M, Nakamura Y, Ono K, Sasano H, Demura Y, Takeda Y.
  • Journal Title: Nur-related factor 1 and neuron-derived orphan receptor 1) and NR5A1 (steroidogenic factor 1) in human cardiovascular and adrenal tissues. J Hypertens Volume: 29 Pages: 1185-1195
  • DOI: DOI:10.1097/HJH.0b013e32834626bb.
  • Peer Reviewed
• [Journal Article] A KCR1 variant implicated in susceptibility to the long QT syndrome (2011)
  • Author(s): Hayashi K, Fujino N, Ino H, Uchiyama K, Sakata K, Konno T, Masuta E, Funada A, Sakamoto Y, Tsubokawa T, Hodatsu A, Yasuda T, Kanaya H, Kim MY, Kupershmidt S, Higashida H, Yamagishi M
  • Journal Title: J Mol Cell Cardiol Volume: 50 Pages: 50-57
  • DOI: DOI:10.1016/j.yjmcc.2010.10.007.
  • Peer Reviewed
• [Journal Article] Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy (2010)
  • Author(s): Funada A, Konno T, Fujino N, Muramoto A, Hayashi K, Tsubokawa T, Sakata K, Kawashiri MA, Takeda Y, Ino H, Yamagishi M.
  • Journal Title: Evidence from a study of genotyped patients. Circ J Volume: 74 Pages: 2674-2680
  • URL: http://www.ncbi.nlm.nih.gov/pubmed/20975235
  • Peer Reviewed
• [Journal Article] Heterogeneity of clinical manifestation of hypertrophic cardiomyopathy caused by deletion of lysine 183 in cardiac troponin I gene (2010)
  • Author(s): Funada A, Masuta E, Fujino N, Hayashi K, Ino H, Kita Y, Ikeda H, Fujii T, Nakanuma Y, Yamagishi M
  • Journal Title: Int Heart J Volume: 51 Pages: 214-217
  • URL: http://www.ncbi.nlm.nih.gov/pubmed/20558914
  • Peer Reviewed
• [Presentation] 原因遺伝子変異が確認された肥大型心筋症の心肥大発症年齢 (2012)
  • Author(s): 藤野 陽
  • Organizer: 第16回日本心不全学会学術集会
  • Place of Presentation: 仙台国際センター(宮城県)
  • Year and Date: 2012-11-30
• [Presentation] 肥大型心筋症における心肥大発症に関与する遺伝的要因の検討(パネルディスカッション8:心血管疾患発症進展における遺伝・環境的要因) (2012)
  • Author(s): 藤野 陽
  • Organizer: 第60回日本心臓病学会学術集会
  • Place of Presentation: 石川県立音楽堂(石川県)
  • Year and Date: 2012-09-16
• [Presentation] Impact of Genetic Analysis on the mode of Death in Genotyped Hypertrophic Cardiomyopathy (2011)
  • Author(s): Fujino N
  • Organizer: American Heart Association's Scientific Sessions2011
  • Place of Presentation: Orange County Convention Center(USA)
  • Year and Date: 2011-11-15
• [Presentation] The Impact of Systolic Dysfunction on Prognosis of Genotyped Hypertrophic Cardiomyopathy (2011)
  • Author(s): Fujino N
  • Organizer: 60th Annual Scientific Session of American College of Cardiology
  • Place of Presentation: Earnest N. Morial Convention Center(USA)
  • Year and Date: 2011-04-03
• [Remarks]
  • URL: http://intmed2.w3.kanazawa-u.ac.jp/index_j.html