2016 Fiscal Year Final Research Report
Mechanism of Inherited Arrhythmia Syndrome with SCN10A mutation
| Project/Area Number |
15K19375
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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 |
Cardiovascular medicine
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
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| Research Collaborator |
HORIE Minoru
OHNO Seiko
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Keywords | 遺伝性不整脈症候群 / 遺伝子 / 心筋ナトリウムチャネル / SCN10A / Nav1.8 |
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| Outline of Final Research Achievements |
I have investigated SCN10A polymorphisms in patients with inherited primary arrhythmia syndrome (IPAS), and their clinical characteristics.
1) Our SCN5A mutation carriers (except LQTS) with additional SCN10A SNPs were significantly symptomatic and more experience fatal arrhythmic attacks. Multiple genetic hits by SCN5A and SCN10A variants may result in a severer loss-of-function of voltage-gated sodium channels and thereby more malignant phenotypes. 2) We identified rare SCN10A variants in patients with IPAS, and half of them were suspected as deleterious using the prediction software. Most of patients with deleterious SNPs suffered from severe symptom. More than half of them experienced fatal arrhythmic attacks and 30% are deceased. Rare SNPs of SCN10A predicted as deleterious by prediction software might modify clinical severity of carriers.
I clarified these phenomena in our study.
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| Free Research Field |
医学系循環器内科学
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