2022 Fiscal Year Final Research Report
A multilateral approach to the diagnosis of sudden cardiac death centering on DNA methylation
| Project/Area Number |
20K10569
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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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| Review Section |
Basic Section 58040:Forensics medicine-related
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| Research Institution | Kansai Medical University |
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Principal Investigator |
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| Project Period (FY) |
2020-04-01 – 2023-03-31
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| Keywords | DNAメチル化解析 / 心臓突然死 / ゲノム変異解析 / ミトコンドリアDNA / 次世代シークエンサー |
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| Outline of Final Research Achievements |
Genome-wide methylation analysis, cardiac disease-related gene mutation analysis, and drug metabolism gene mutation analysis were performed on myocardial samples from sudden death cases, and compared with samples from other causes of death. In addition, mitochondrial DNA analyses were performed on the myocardium and blood of the same individuals, and their complete sequences were compared. Methylation analysis revealed mutations unique to sudden death in methylation of the ATP10 gene, and mutations in cardiac disease-related genes were also identified in several cases. In mitochondrial DNA, heteroplasmy was observed between blood and myocardium, suggesting that mutations in myocardium may be involved in sudden death.
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| Free Research Field |
法医遺伝学
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| Academic Significance and Societal Importance of the Research Achievements |
心臓突然死例は剖検所見のみからでは死因の判断に苦慮することが多い．そこで，先天的要因である心疾患系遺伝子解析に加え，薬剤代謝系遺伝子変異解析，さらには後天的な外的要因となる心筋のメチル化，およびミトコンドリアDNA解析を行うことで多方面からの死因究明が可能となった．死因を正確に判断することで，法律の公正な適用，あるいは公衆衛生の向上に資するという法医学の社会的要請に応えることができる．
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