2016 Fiscal Year Final Research Report
An examination of mutation-specific precipitation factors for ventricular tachyarrhythmias in concealed inherited arrhythmia syndromes
| 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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| Project Period (FY) |
2014-04-01 – 2017-03-31
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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 |
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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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| Free Research Field |
循環器内科
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