| Project/Area Number |
20K10569
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Review Section |
Basic Section 58040:Forensics medicine-related
|
|---|
| Research Institution | Kansai Medical University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2020-04-01 – 2023-03-31
|
| Project Status |
Completed (Fiscal Year 2022)
|
| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2022: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2021: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2020: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
|
|---|
| 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 / miRNA |
|---|
| Outline of Research at the Start |
心臓突然死が疑われる解剖例の心筋を試料として，DNAメチル化解析，ゲノムの変異解析，カテコラミン関連miRNA解析を行う．全て次世代シークエンサーを用いて解析を行うことで，「メチル化率」および「多数のDNA変異」，「miRNAの種類と量」等の情報を得ることが可能となる．これらの情報を他の死因例と比較することで，心臓突然死独特の特徴ある所見を得ることができるであろう．その結果，病理所見にこれら３つの情報を合わせることで，より正確な心臓突然死診断が可能となる．
|
| 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.
|
| 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．
|
