Gene analysis for the inherited arrhythmia and functional characterization of disease-causing rare variants by using zebrafish
| Project/Area Number |
23591078
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Circulatory organs internal medicine
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| Research Institution | Kanazawa University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
HAYASHI Kenshi 金沢大学, 大学病院, 助教 (00422642)
KONNO Tetsuo 金沢大学, 医学系, 助教 (50377389)
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| Co-Investigator(Renkei-kenkyūsha) |
HIGASHIDA Haruhiro 金沢大学, 子供のこころ発達研究センター, 教授 (30093066)
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| Project Period (FY) |
2011 – 2013
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 遺伝性不整脈 / 遺伝子変異 / ゼブラフィッシュ / 循環器 / 遺伝子 / 機能解析 / 生理学 |
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| Research Abstract |
Gene analysis showed mutations were found in 27 out of 90 patients with long QT syndrome, 7 out of 58 patients with inherited bradyarrhythmia, 8 out of 90 patients with lone atrial fibrillation. We performed cellular electrophysiological study for detected mutations. Sixteen mutations were loss of function mutations and 2 mutations were gain of function mutations. Morpholino KCNH2 knockdown in zebrafish embryos displayed a AV block and WT hHERG RNA injection restored normal repolarization.
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Report
(4 results)
Research Products
(49 results)
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[Presentation] Mechanisms of fever-induced QT prolongation in a patient with a KCNH2 G584S mutation.2014
Author(s)
Kenshi Hayashi, Tadashi Nakajima, Shoichi Tange, Hidekazu, Ino, Noboru Fujino, Tetsuo Konno, Toyonobu Tsuda, Yoshihiro Tanaka, Masa-aki Kawashiri, Yoshiaki Kaneko, Masahiko Kurabayashi, Masakazu Yamagishi
Organizer
The 78th Annual Scientific Meeting of the Japanese Circulation Society
Place of Presentation
東京国際フォーラム（東京）
Related Report
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[Presentation] Impact of New LQTS Diagnostic Criteria on Detection of Long QT Syndrome with Carrying Gene Mutations.2013
Author(s)
Kenshi Hayashi, Noboru Fujino, Tetsuo Konno, Toyonobu Tsuda, Yoko Imi-hashida, Takekatsu Saito, Kunio Ohta, Hidekazu Ino, Masa-aki Kawashiri, and Masakazu Yamagishi.
Organizer
American Heart Association SCIENTIFIC SESSIONS
Place of Presentation
Dallas Convention Center （Dallas, TX. USA)
Related Report
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