Mechanism of the onset of autism by sex-specific epigenomic regulation.

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K07365
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 48040:Medical biochemistry-related
• Research Institution: Kanazawa University
• Principal Investigator: Horike Shin-ichi 金沢大学, 疾患モデル総合研究センター, 准教授 (40448311)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 自閉症 / エピゲノム / オキシトシン / エンハンサー

Outline of Final Research Achievements

It seems that the factors causing sex differences in neurodevelopmental disorders such as autism, depression, and anxiety disorders involve a complex interplay of factors such as the involvement of genes on sex chromosomes and the influence of sex hormones on brain development during the fetal and neonatal periods. In the clinical trial of oxytocin for autism, a neurodevelopmental disorder, we have revealed that the effect of oxytocin administration is stronger in males and that the effect is very broad, ranging from a very large effect among males to almost no effect among males. In this study, we performed epigenomic analysis of the OXTR and AVPR genes to investigate the possibility of generating sex differences in the development of neurological disorders such as social and emotional disorders.

Free Research Field

分子生物学

Academic Significance and Societal Importance of the Research Achievements

遺伝的要因・内分泌要因・環境要因といった多面的な角度からOXTR遺伝子やAVPR遺伝子のエピゲノム解析・遺伝子発現解析を行った研究はこれまでに報告されておらず，その研究成果は自閉症やうつ病などの神経発達障害における性差の分子基盤を明らかにするだけでなく，それらの発症機序の解明にもつながることが期待される。