Identification of the effect of copy number variations associated with schizophrenia on brain networks

2021 Fiscal Year Final Research Report

• Project/Area Number: 17K10295
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Nagoya University
• Principal Investigator: Yamamoto Maeri 名古屋大学, 医学部附属病院, 助教 (50778272)
• Project Period (FY): 2017-04-01 – 2022-03-31
• Keywords: 統合失調症 / ゲノムコピー数変異 / MRI

Outline of Final Research Achievements

Clinical phenotypic information was examined retrospectively for four patients with 3q29 deletions identified using the array CGH method. All patients had treatment-resistant features, and clozapine, a treatment for treatment-resistant schizophrenia, was used in two patients and was effective in both cases.
The resting-state functional MRI analysis revealed the aberrant functional connectivity between the thalamus and visual cortex is related to attentional impairment in schizophrenia.

Free Research Field

精神医学

Academic Significance and Societal Importance of the Research Achievements

本研究は、3q29欠失を持つ統合失調症患者を対象とした神経生物学的研究によって治療抵抗性統合失調症のメカニズム解明と治療薬開発に繋がる可能性を示した。一方、統合失調症における機能的脳内ネットワークの障害と注意障害との関係を明らかにした。今後3q29欠失を持つ統合失調症患者を対象に解析を行うことで3q29欠失が脳内ネットワークおよび認知機能に与える影響を検討することができる。