2013 Fiscal Year Final Research Report
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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| Keywords | 遺伝性不整脈 / 遺伝子変異 / ゼブラフィッシュ |
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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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