Elucidation of schizophrenia pathology using iPSCs with 22q11.2 deletion

Research Project

Project/Area Number	16K19760
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Psychiatric science
Research Institution	Nagoya University
Principal Investigator	Arioka Yuko 名古屋大学, 医学部附属病院, 特任助教 (10709497)
Project Period (FY)	2016-04-01 – 2020-03-31
Project Status	Completed (Fiscal Year 2019)
Budget Amount *help	¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000) Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000) Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000) Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords	染色体22q11.2欠失 / 精神神経疾患 / iPS細胞 / ドパミン神経細胞 / 統合失調症 / 22q11.2欠失 / 精神疾患 / ゲノム変異
Outline of Final Research Achievements	Patients with chromosome 22q11.2 deletion have high-risks for the onset of various neuropsychiatric disorders; however, its molecular and cellular pathology remains unclear. To address this, we used patient iPS cell (iPSC)-derived neurons. Our findings revealed that compared to healthy control iPSC-derived neurons, patient iPSC-derived neurons showed defects in signals related to endoplasmic reticulum stress.
Academic Significance and Societal Importance of the Research Achievements	染色体22q11.2欠失症候群は指定難病のひとつであり、生涯にわたって多様な精神神経疾患の発症リスクを背負う。患者iPS細胞を用いた本研究成果により、染色体22q11.2欠失症候群の細胞・分子病態の一端が解明された。小胞体関連シグナルは近年様々な神経機能への影響が報告されている。今回同定した分子異常がどのように脳細胞異常を引き起こし、さらにはどのような脳機能異常をもたらすのか、今後のさらなる研究が期待される。