| Project/Area Number |
26461056
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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 |
Cardiovascular medicine
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| Research Institution | Gunma University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
倉林 正彦 群馬大学, 大学院医学系研究科, 教授 (00215047)
金古 善明 群馬大学, 大学院医学系研究科, 准教授 (60302478)
五條 理志 京都府立医科大学, 医学(系)研究科(研究院), 教授 (90316745)
林 研至 金沢大学, 附属病院, 助教 (00422642)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 遺伝性不整脈 / 潜在性 / 遺伝子変異 / 顕性化因子 / イオンチャネル / 致死性不整脈 |
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| Outline of Final Research Achievements |
We tried to clarify the molecular mechanisms of phenotypic manifestations by mutation-specific precipitation factors for ventricular tachyarrhythmias in inherited arrhythmia syndromes. A SCN5A R1632C mutation was identified in a Brugada syndrome (BrS) family who presented with exercise-induced cardiac events (atypical BrS). The mutation had an enhanced fast inactivated-state stability of cardiac sodium channels, which could explain the phenotypic manifestation of atypical BrS. A KCNH2 G584S mutation was identified in a patient with fever-induced long QT syndrome (LQTS), and its molecular mechanisms was clarified. Two KCNQ1 mutations were identified in patients with fever-induced LQTS.
We found that transient myocardial ischemia due to coronary spasm could be the cause of post myocardial ischemia-associated torsades de pointes (TdP) in a SCN5A delF1617 carrier, and that left bundle branch block-related cardiac memory could be a novel precipitation factor for TdP in a SCN5A P621H carrier.
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