Mutational analysis of SCN5A gene in sudden cardiac death and its application
| Project/Area Number |
15K19277
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Legal medicine
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| Research Institution | Kitasato University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Keywords | SCN5A / 心臓性突然死 / 心臓イオンチャネル遺伝子 / 心筋症 / 致死性不整脈 / QT延長症候群 / 急性心機能不全 |
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| Outline of Final Research Achievements |
In most cases of sudden death, cause and manner of death can be established, with many attributable to cardiac abnormalities at autopsy. A significant number of sudden cardiac deaths, however, particularly in young people,remains unexplained following a comprehensive medicolegal investigation, including autopsy and laboratory tests.
In this study, comprehensive screening of cardiac ion channel gene, SCN5A were preformed in sudden cardiac death. One mutation(p.Phe532Cys) was detected in only acute heart failure and dilated cardiomyopathy cases. This mutation was analyzed by using Polyphen2. p.Phe532Cys had Polyphen2 score of 0.999 (Probably damaging). It would be desirable to survey other disease-causing genes to determine a more accurate prevalence of gene mutations in sudden cardiac death.
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Report
(3 results)
Research Products
(2 results)
