Understanding of pathophysiological mechanisms and development of the treatment of schizophrenia based on novel gene polymorphisms of glyoxalase 1.

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K07551
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52030:Psychiatry-related
• Research Institution: Kanazawa University
• Principal Investigator: Harashima Ai 金沢大学, 医学系, 助教 (50705522)
• Co-Investigator(Kenkyū-buntansha): 棟居 聖一 金沢大学, 医学系, 助教 (10399040)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 転写調節

Outline of Final Research Achievements

Glyoxalase 1 (GLO1) has been known to be associated with schizophrenia. However, the mechanism remains unknown. In this study, we revealed that novel gene polymorphisms in the human GLO1 promoter were involved in the pathogenesis of schizophrenia using human samples as well as iPS cells derived from the patients. In addition, we identified a novel gene mutation in human GLO1 promoter region in the patients with schizophrenia. The gene mutation was found to be specific to schizophrenia. These findings suggest that GLO1 gene could be a target for the treatment and prophylaxis of schizophrenia.

Free Research Field

分子生物学

Academic Significance and Societal Importance of the Research Achievements

100人に1人が発症する患者数の多い精神疾患である統合失調症の病態形成メカニズムを明らかにすることは、新たな治療法、治療薬の開発にとって極めて重要である。本研究では、これまで不明であったGlyoxalase 1（GLO1）と統合失調症との関連性を明らかにするとともに、統合失調症特異的なGLO1遺伝子変異の発見にも成功した。本研究の成果の学術的意義は大きい。また、本研究の成果によりこれまでにない新たな統合失調症の治療法、治療薬が開発される可能性があり、社会的意義も大きいと考えられる。