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An investigation into autonomic nervous system gene abnormality in unexplained sudden death cases with cardiac hypertrophy

Research Project

Project/Area Number 18K17414
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 58040:Forensics medicine-related
Research InstitutionOsaka University

Principal Investigator

Miyashita Yohei  大阪大学, 医学系研究科, 助教 (60816312)

Project Period (FY) 2018-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsバイオインフォマティクス / 突然死 / ゲノム / 自律神経異常 / 自律神経 / ゲノム検査 / データベース / 死因究明 / 全エクソームシーケンス / トランスクリプトーム解析 / 心肥大 / ゲノム解析
Outline of Final Research Achievements

In the group suspected of sudden cardiac death, there was no difference in the weight of the heart compared with the control case. On the other hand, the life span was shown to be significantly shorter in the sudden cardiac death group, suggesting a genetic background difference. Therefore, we used the results of a genomic test performed during forensic autopsy to examine gene mutations related to heart disease and gene mutations related to autonomic nerves in the sudden death group, cardiac hypertrophy group, and control group. The sudden cardiac death group and the cardiac hypertrophy group had significantly more heart disease-related gene mutations than the control group, and only the sudden cardiac death group had significantly more autonomic nerve-related gene mutations than others. These results suggest that the presence of autonomic nerve-related gene mutations is necessary in addition to heart disease-related gene mutations for the establishment of sudden cardiac death.

Academic Significance and Societal Importance of the Research Achievements

「突然死」は日本国内で多数起こっている事象であるが、その経過時間があまりに短いがゆえに「臨床に到達できない死」として、主に法医学教室において取り扱われている。こうした事例に対してゲノム検査を通じて得られた所見を解析することで、死因究明のみならずその遺族、ひいては同じ遺伝子変異を持つ者に対しても将来的に発症リスクを還元することができ、予防医学的な観点からも非常に重要であると考える

Report

(3 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • Research Products

    (7 results)

All 2019 2018

All Presentation (7 results) (of which Invited: 1 results)

  • [Presentation] 全エクソームおよびRNAシークエンス を用いた突然死の死亡機序の解明2019

    • Author(s)
      宮下洋平
    • Organizer
      第103次日本法医学会学術全国集会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 全エクソームシークエンスを用いた心臓突然死疾患データベースの構築および突然死関連遺伝子の新規探索2019

    • Author(s)
      宮下洋平
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ゲノムデータの機械学習に基づく心臓突然死関連遺伝子の新規探索2019

    • Author(s)
      宮下洋平
    • Organizer
      第23回日本心不全学会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Identification of pathogenic genes in sudden unexpected death based on artificial intelligence and machine learning2019

    • Author(s)
      宮下洋平
    • Organizer
      第36回ISHR日本部会総会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 全エクソームおよびRNAシークエンスを用いた突然死の死亡機序の解明2019

    • Author(s)
      宮下洋平,磯部悠,坂橋優治,高橋真樹子, 東阪和馬,杉本香奈,原田和生,片田竜一,松本博志
    • Organizer
      日本法医学会総会
    • Related Report
      2018 Research-status Report
  • [Presentation] 心臓突然死事例における遺伝学的背景の解明2018

    • Author(s)
      有田一翔,宮下洋平,高橋真樹子,中間健太郎, 東阪和馬,杉本香奈,原田和生,片田竜一,松本博志
    • Organizer
      日本法医学会近畿地方会
    • Related Report
      2018 Research-status Report
  • [Presentation] 全エクソーム解析からみた心臓突然死症例の遺伝学的プロファイル2018

    • Author(s)
      宮下洋平,高橋真樹子,中間健太郎, 東阪和馬,杉本香奈,原田和生,片田竜一,松本博志
    • Organizer
      日本DNA多型学会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2021-02-19  

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