2019 Fiscal Year Final Research Report
An investigation into autonomic nervous system gene abnormality in unexplained sudden death cases with cardiac hypertrophy
| Project/Area Number |
18K17414
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 58040:Forensics medicine-related
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| Research Institution | Osaka University |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2020-03-31
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| 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 |
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| 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.
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| Free Research Field |
バイオインフォマティクス
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| 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
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