Analysis of somatic mutations in brains of patients with psychiatric disorders

2021 Fiscal Year Final Research Report

• Project/Area Number: 18H02753
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 52030:Psychiatry-related
• Research Institution: Kumamoto University
• Principal Investigator: Iwamoto Kazuya 熊本大学, 大学院生命科学研究部(医), 教授 (40342753)
• Co-Investigator(Kenkyū-buntansha): 川野 美智代 尚絅大学, 生活科学部, 准教授 (30738472)
• Project Period (FY): 2018-04-01 – 2022-03-31
• Keywords: 統合失調症 / 体細胞変異 / トランスポゾン

Outline of Final Research Achievements

Somatic mutations occur in genomic DNA in the cranial nervous system contribute to the diversity of structures and functions of neural cells. In addition, their frequency and patterns are considered to be deeply related to the pathophysiology of psychiatric disorders. In this project, we established techniques detecting somatic mutation detection and applied them to analysis of postmortem brain of schizophrenia patients. As a result, we established new pipelines to extract somatic mutations from genomic information and identified somatic mutations in the brain samples of schizophrenia patients.

Free Research Field

分子精神医学

Academic Significance and Societal Importance of the Research Achievements

本研究で確立した体細胞変異検出のためのバイオインフォマティクスパイプラインは、今後、精神疾患の様々なゲノム解析データに適用可能であり、精神疾患の病因・病態の理解が進むと期待される。また、本解析手法を応用することにより、分化・発生・老化や他の疾患研究に広く適用可能である。