2022 Fiscal Year Final Research Report
A multifaceted approach to elucidate the pathophysiology of sudden death in patients taking psychotropic drugs for a long time.
| Project/Area Number |
20K21693
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| Research Category |
Grant-in-Aid for Challenging Research (Exploratory)
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| Allocation Type | Multi-year Fund |
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| Review Section |
Medium-sized Section 58:Society medicine, nursing, and related fields
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
橋谷田 真樹 関西医科大学, 医学部, 准教授 (40374938)
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| Project Period (FY) |
2020-07-30 – 2023-03-31
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| Keywords | 突然死 / 向精神薬 / 心疾患関連遺伝子 / 薬剤代謝関連遺伝子 / 変異解析 / ミトコンドリアDNA |
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| Outline of Final Research Achievements |
In the cardiac disease-related gene analysis, 500-1011 SNPs (average 719.2) were observed when compared to the standard human genome sequence, hg19. Next, we filtered the data using ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/), a database that collects information on diseases associated with the human genome. As a result, 5-13 SNPs were detected. Among these, many samples showed mutations in the TNNI3 gene. On the other hand, analysis of drug metabolism-related genes yielded typing results for 137 SNPs. Among them, CYP1A, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 genes play important roles in drug metabolism, but no mutations that prevented these genes from working were observed.
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| Free Research Field |
法医学
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| Academic Significance and Societal Importance of the Research Achievements |
成人の突然死例の中には、ある一定の割合で原因究明が困難な一群がある。この誘因として長期に亘る向精神薬投与が影響していると考えられているが、一つの機関での症例数の少なさに加え解剖自体の未執行が加わり、分子生物学的探索はほぼ手つかずの状態にあるといってもよい。しかし当分野ではある程度の症例数の蓄積がある。そこで本研究では心疾患関連遺伝子および薬剤代謝関連遺伝子の変異解析、さらにミトコンドリアDNA解析という、多角的アプローチによる精神科領域における突然死の原因解明を試みようというものである。
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