Analysis of aberrant methylation on CpG island of X chromosome in male schizophrenia

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K19765
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Kobe University
• Principal Investigator: Otsuka Ikuo 神戸大学, 医学部附属病院, 助教 (40722880)
• Project Period (FY): 2016-04-01 – 2019-03-31
• Keywords: 統合失調症 / X染色体 / DNAメチル化

Outline of Final Research Achievements

Each CpG methylation status of CpG island A in 40 male schizophrenia (SCZ) patients and 40 healthy males (as "replication cohort") were analysed by MassARRAY; I revealed that approximately 30% of male SCZ have aberrant higher methylation of CpG island A. In addition, I investigated the association between TAF1 gene expression and methylation status of CpG island A using data from replication cohort. As in vitro study, I have been trying CRISPR-Cas experiments using male-derived neural stem cells and iPSC-derived neural cells in order to further clarify the biological importance of aberrant methylation of CpG island A.

Free Research Field

統合失調症

Academic Significance and Societal Importance of the Research Achievements

統合失調症の有病率や重症度に性差があることはよく知られているが、その生物学的機序は不明であり、統合失調症とX染色体領域のメチル化異常に着目した研究はほとんどない。本解析を遂行できれば、世界に先駆けて統合失調症の病態や性差に関する生物学的異常の一部をDNAメチル化という可塑性（治療可能性）のある現象を通して解明することにつながり、統合失調症領域における今後の診断・治療の発展に大きな貢献ができると考える。