Elucidation of the etiology of neurodevelopmental disorders through multi-scale omics analysis

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K21479
• Research Category: Grant-in-Aid for Challenging Research (Exploratory)
• Allocation Type: Multi-year Fund
• Review Section: Medium-sized Section 47:Pharmaceutical sciences and related fields
• Research Institution: Osaka University
• Principal Investigator: Kasai Atsushi 大阪大学, 大学院薬学研究科, 准教授 (40454649)
• Project Period (FY): 2020-07-30 – 2023-03-31
• Keywords: 自閉スペクトラム症 / 全脳 / fate mapping

Outline of Final Research Achievements

The etiology of neurodevelopmental disorders, such as autism spectrum disorders, remains unclear, and the current interventions are severely limited. In this study, we aimed to elucidate the etiology of developmental disorders by combining birthdate tagging techniques during the cortical development period with whole-brain imaging to identify abnormal cell populations. Our findings revealed that heterogeneity in the distribution of neurons differentiating at E13.5 within the cerebral cortex, attributed to epigenetic changes. Additionally, we observed significant alterations in the distribution of inhibitory neurons compared to excitatory neurons. These findings contribute to future drug discovery research therapeutic target for neurodevelomental disorders.

Free Research Field

神経薬理学

Academic Significance and Societal Importance of the Research Achievements

発達障害モデルマウスの脳形成期に生じる脳構造異常の詳細は不明であった。本研究により、大脳皮質の構造異常の詳細が明らかになったことから、今後これまで停滞してきた発達障害の発症メカニズムに迫ることが期待される。