2023 Fiscal Year Final Research Report
Comprehensive genetic and morphological analysis for sudden cardiac death autopsy cases
| Project/Area Number |
21H03211
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Review Section |
Basic Section 58040:Forensics medicine-related
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| Research Institution | University of Toyama |
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Principal Investigator |
Hata Yukiko 富山大学, 学術研究部医学系, 准教授 (30311674)
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| Co-Investigator(Kenkyū-buntansha) |
西田 尚樹 富山大学, 学術研究部医学系, 教授 (10315088)
一萬田 正二郎 富山大学, 学術研究部医学系, 助教 (60849355)
廣野 恵一 富山大学, 学術研究部医学系, 講師 (80456384)
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 突然死 / エクソーム解析 / 病理組織学的検索 / 遺伝子変異 / 次世代シーケンサー |
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| Outline of Final Research Achievements |
The combined use of histopathological search and genetic analysis using next-generation sequencing was shown to be effective in determining the cause of death in autopsy cases of sudden cardiac death. In 65 autopsy cases of sudden cardiac death, including 35 undiagnosed cases, a variety of rare mutations were identified through whole exome analysis, and functional analysis and histopathological re-evaluation were performed. As a result, seven cases were diagnosed as known cardiomyopathies or channelopathies, and 15 cases were used to report the etiology and pathogenesis in a paper. This study demonstrated the importance of combining histopathological search and genetic analysis in elucidating the etiology and pathogenesis of sudden death and contributed to laying the foundation for improved diagnostic protocols.
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| Free Research Field |
法医学
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| Academic Significance and Societal Importance of the Research Achievements |
心臓突然死の死因究明において、病理組織学的検索と次世代シークエンスを用いた遺伝子解析の併用が有効であることを示した。これにより、新たな病原性遺伝子変異の特定とその機能評価を通じて、心臓突然死の病因・病態の解明に寄与することができた。また、心臓突然死に関する診断基準の精度向上や、今後の研究の基盤を築く一助となった。診断精度の向上により、早期対応が可能となり、ご遺族への予防策の確立が期待される。さらに、社会全体の突然死予防に寄与することが期待される。
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