Molecular analysis of bipolar disorder based on copy number variation

2019 Fiscal Year Final Research Report

• Project/Area Number: 17H05090
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: Nagoya University
• Principal Investigator: Kushima Itaru 名古屋大学, 医学部附属病院, 病院講師 (00732645)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 双極性障害 / ゲノムコピー数変異

Outline of Final Research Achievements

Genetic factors have an important role for the risk of bipolar disorder (BD), but the details remained unclear. In this study, we performed a genome-wide analysis of copy number variations (CNVs), which have been implicated in other psychiatric disorders. We found that CNVs previously associated with psychiatric disorders may increase the risk for BD. Further analysis of CNV data revealed the involvement of lipid metabolism in the pathogenesis of BD. We analyzed iPS cells derived from BD patients with specific BD-associated CNVs and observed morphological abnormalities of dendrites and synapses in neurons.

Free Research Field

精神医学

Academic Significance and Societal Importance of the Research Achievements

双極性障害の発症には遺伝要因が強く関与するが、その詳細や発症メカニズムは不明であった。本研究結果から、精神疾患との関連が既に知られている様々なCNVが本疾患の発症に関与することが示唆され、双極性障害の遺伝要因の解明に繋がる成果といえる。また双極性障害の発症メカニズムとして脂質代謝異常の関与や、患者iPS細胞由来神経細胞において形態学的な異常も見出した。以上の知見は、双極性障害の病態の理解や治療法の開発に繋がる成果である。