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2018 Fiscal Year Final Research Report

The molecular analysis of a candidate gene as a cause of schizophrenia

Research Project

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Project/Area Number 16K10190
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Psychiatric science
Research InstitutionNagasaki University

Principal Investigator

ONO Shinji  長崎大学, 原爆後障害医療研究所, 客員研究員 (70418820)

Project Period (FY) 2016-04-01 – 2019-03-31
Keywords臨床精神医学 / 分子遺伝学
Outline of Final Research Achievements

Schizophrenia is a devastating, chronic neurodevelopmental disorder that affects approximately 1%. The pathogenesis is still unclear although it is one of the common diseases. In this study, we explored a new gene for schizophrenia in a three-generation family from Nagasaki prefecture utilizing whole-exome sequencing. As a result, we identified a new candidate gene for schizophrenia. We then generated a mouse model and performed expression and behavioral analysis to confirm the effect of this mutation. Results of these analyses supported that the mutation of this gene we identified could cause schizophrenia, which will lead to elucidation of the pathogenesis of this disease in the future.

Free Research Field

臨床精神医学

Academic Significance and Societal Importance of the Research Achievements

これまで統合失調症をはじめとした精神神経疾患の遺伝的および生物学的要因の関与は明らかであったが、その詳細は不明な点が多かった。今回の研究成果はある一つの遺伝子が新たな統合失調症の原因であることを双方向的に証明したことが最も重要な点である。現段階ではこの遺伝子変異が脳機能に影響を与えるメカニズムの同定にはいたっていないが、今後解析を続けることにより統合失調症の病態解明につながるのみならず、診断の細分化や新たな治療標的の同定につながる可能性がある。このように本研究は医療行政上大変有意義であり、国民の保健・精神医療に多大なる貢献ができると考えられる。

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Published: 2020-03-30  

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