2021 Fiscal Year Final Research Report
Molecular background of circadian rhythm of development of ventricuar arrhythmia in patients with Brugada syndrome
| Project/Area Number |
17K09524
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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 | International University of Health and Welfare (2018-2021)
Keio University (2017) |
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Principal Investigator |
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| Project Period (FY) |
2017-04-01 – 2022-03-31
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| Keywords | ブルガダ症候群 / 突然死 / 遺伝子解析 / 日内変動 / 臨床心臓学 |
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| Outline of Final Research Achievements |
Brugada syndrome arrhythmias are known to occur during nighttime sleep, but the details of the arrhythmic arrhythmia mechanism are unclear. The purpose of this study was to comprehensively analyze the genomes of patients with Brugada syndrome with a next-generation sequencer, and to clarify the molecular biological background of circadian rhythms.
So far, 145 gene samples of Brugada syndrome patients have been collected. Panel or exsome analysis revealed rare variants in 12 SCN5A cases, 2 SCN3B cases, 1 SCN10A case, 1 GPD1L case, and 6 desmosome-related genes. The mutation identification rate was 15%.
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| Free Research Field |
不整脈、循環器病学
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| Academic Significance and Societal Importance of the Research Achievements |
若年性心臓突然死を来す循環器疾患のうち、代表的なブルガダ症候群において、申請者は臨床的に問題となる電気的ストームは日内・週内・季節変動することを初めて一連の患者で報告した。ブルガダ症候群の不整脈は夜間睡眠中に起きることが知られているが、不整脈の概日リズムのメカニズムの詳細は未解明である。ブルガダ症候群患者のゲノムを次世代シークエンサーで網羅的に解析し、ひいては概日リズムの分子生物学的背景を解 明することを目的として研究を行い、背景にある遺伝子異常を一部の症例で明らかにした。
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