Mechanism of Inherited Arrhythmia Syndrome with SCN10A mutation

2016 Fiscal Year Annual Research Report

• Project/Area Number: 15K19375
• Research Institution: Shiga University of Medical Science
• Principal Investigator: 福山 恵 滋賀医科大学, 医学部, 助教 (60625771)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 循環器 / 家族性不整脈症候群 / 遺伝子

Outline of Annual Research Achievements

平成27年度に引き続きブルガダ症候群患者におけるSCN10A変異の解析を進め、対象を更に家族性心臓突然死症候群全体に拡大した。
タンパク質の構造において有害な影響を及ぼすと予測される個所にSCN10A遺伝子変異をもつ患者が、もたない患者に比べて有意に臨床像が重篤であり、致死的不整脈発作や死亡例が多い傾向にあるという結果を得た。
この結果につき、家族性心臓突然死症候群におけるSCN10A変異が臨床像へ及ぼす影響について、同年8月にイタリア・ローマで開催された国際学会『欧州心臓病学会』にて発表を行った。
また更に、平成29年3月に石川県金沢市で開催された『日本循環器学会学術集会総会』にて研究成果につき発表を行った。
またその他、家族性心臓突然死症候群に関するその他の原因遺伝子について他研究者の補助を行い、共同演者・共著者として学会発表及び論文作成の補助に寄与した。

Research Products

• [Journal Article] Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes. (2016)
  • Author(s): Ichikawa M, Aiba T, Ohno S. Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M.
  • Journal Title: Circulation Journal. Volume: 80 Pages: 2435-2442
  • DOI: http://doi.org/10.1253/circj.CJ-16-0486
  • Peer Reviewed
• [Presentation] Rare Single Nucleotide Polymorphism of SCN10A in Patients with Inherited Primary Arrhythmia Syndromes (2017)
  • Author(s): Megumi Fukuyama, Seiko Ohno, Mari Ichikawa, Takeru Makiyama, Minoru Horie
  • Organizer: 第81回日本循環器学会学術集会
  • Place of Presentation: 金沢、石川
  • Year and Date: 2017-03-17 – 2017-03-19
• [Presentation] A Novel Transport Refractory Mutation in KCNH2 Identified in Symptomatic Long QT Syndrome Patients. (2017)
  • Author(s): Fukumoto D, Ohno S, Wada Y, Fujii Y, Ichikawa M, Fukuyama M, Itoh H, Matsuura H, Horie M
  • Organizer: 第81回日本循環器学会学術集会
  • Place of Presentation: 金沢、石川
  • Year and Date: 2017-03-17 – 2017-03-19
• [Presentation] High prevalence of late onset T in patients with long QT syndrome type 8. (2016)
  • Author(s): Ohno S, Junichi Ozawa, Megumi Fukuyama, Takeru Makiyama, Minoru Horie
  • Organizer: American Heart Association
  • Place of Presentation: New Orleans, USA
  • Year and Date: 2016-11-12 – 2016-11-16
  • Int'l Joint Research
• [Presentation] Various ANK2 mutations in patients with inherited primary arrhythmia syndromes. (2016)
  • Author(s): Ichikawa M, Aiba T, Ohno S, Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M
  • Organizer: 9th APHRS Scientific Session.
  • Place of Presentation: Seoul, Korea
  • Year and Date: 2016-10-12 – 2016-10-15
  • Int'l Joint Research
• [Presentation] Rare Single Nucleotide Polymorphism of SCN10A in Patients with Inherited Primary Arrhythmia Syndromes (2016)
  • Author(s): Megumi Fukuyama, Seiko Ohno, Mari Ichikawa, Takeru Makiyama, Minoru Horie
  • Organizer: ESC CONGRESS 2016
  • Place of Presentation: Rome, Italy
  • Year and Date: 2016-08-27 – 2016-08-31
  • Int'l Joint Research
• [Presentation] A novel CACNA1C mutation identified in a patient with atypical Timothy syndrome exerts both loss- and gain-of-function effects on Cav1.2. (2016)
  • Author(s): Ozawa J, Ohno S, Toyoda F, Itoh H, Fukuyama M, Harita T, Makiyama T, Hiroshi Suzuki, Akihiko Saitoh, Matsuura H, Horie M
  • Organizer: ESC CONGRESS 2016
  • Place of Presentation: Rome, Italy
  • Year and Date: 2016-08-27 – 2016-08-31
  • Int'l Joint Research