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2017 Fiscal Year Final Research Report

Elucidation of synaptic dysfunctions in patients with developmental disorder

Research Project

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Project/Area Number 15K09631
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University

Principal Investigator

Yamamoto Toshiyuki  東京女子医科大学, 医学部, 教授 (20252851)

Co-Investigator(Renkei-kenkyūsha) SHIMOJIMA Keiko  東京女子医科大学, 医学部, 特任助教 (30578935)
Project Period (FY) 2015-04-01 – 2018-03-31
KeywordsヒトiPS細胞 / シナプス機能 / 発達障害 / 遺伝子ノックダウン
Outline of Final Research Achievements

Genomic analysis studies on patients with developmental disorders have led the synaptic dysfunction to be considered the essence of the disorder. However, it is almost always that synaptic pathology is suspected from genomic information, and the actual state of molecular pathology at the cell level is hardly understood yet. Therefore, we analyzed the pathological condition at the level of neurons differentiated from human iPS cells and attempted to clarify the molecular dysfunction and its pathology. As a result, it was shown that gene knockdown reduces spine density in neuronal dendrites. We are planning to investigate whether this phenomenon can be rescued by drug administration in the future.

Free Research Field

小児神経学

URL: 

Published: 2019-03-29  

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