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2019 Fiscal Year Final Research Report

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

Research Project

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Project/Area Number 16K19760
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Psychiatric science
Research InstitutionNagoya 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
Keywords染色体22q11.2欠失 / 精神神経疾患 / iPS細胞
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.

Free Research Field

生物精神医学

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。

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Published: 2021-02-19  

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