2022 Fiscal Year Final Research Report
Elucidation of mechanism of stress vulnerability in the brain caused by chromosome 22q11.2 deletion
Project/Area Number |
19K08015
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 52030:Psychiatry-related
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Research Institution | Nagoya University |
Principal Investigator |
Arioka Yuko 名古屋大学, 医学部附属病院, 特任講師 (10709497)
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Co-Investigator(Kenkyū-buntansha) |
東島 恵美子 (宍戸恵美子) 生理学研究所, システム脳科学研究領域, 特別協力研究員 (40723101)
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Project Period (FY) |
2019-04-01 – 2023-03-31
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Keywords | 22q11.2欠失 / iPS細胞 / ドパミン神経細胞 / PERK |
Outline of Final Research Achievements |
Elucidation of the molecular mechanism in the brain due to 22q11.2 deletion is expected to provide clues to the pathogenesis of various neuropsychiatric disorders. In this study, we attempted to address this issue by using patient-derived iPS cells carrying 22q11.2 deletion. This study revealed that dysfunction of a kinase protein PERK in dopaminergic neurons from 22q11.2 deletion patients causes endoplasmic reticulum stress vulnerability, cytoskeletal abnormalities, and poor contact between endoplasmic reticulum and mitochondria.
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Free Research Field |
生物精神医学、細胞生物学
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Academic Significance and Societal Importance of the Research Achievements |
22q11.2欠失患者は様々な精神神経疾患の発症リスクを生涯にわたって抱える。本成果は、これまで知見に乏しかった22q11.2欠失患者のドパミン神経細胞における新たな病態の解明に寄与するとともに、未だ明らかにされていない精神神経疾患の発症機序解明の一端にも貢献すると期待される。
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