Analysis of Mowat-Wilson syndrome using model mouse
| Project/Area Number |
16K09980
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Institute for Developmental Research Aichi Developmental Disability Center |
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Principal Investigator |
Takagi Tsuyoshi 愛知県医療療育総合センター発達障害研究所, 障害モデル研究部, 主任研究員 (70300879)
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| Project Period (FY) |
2016-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | Mowat-Wilson syndrome / Zn finger / transcription factor / haploinsufficiency / de novo mutation / ZEB2 / Zn-finger / intellectual disability / autosomal dominant / 知的障害 / モデルマウス / モワットウィルソン症候群 / 転写因子 / 重度知的障害 / モワット・ウィルソン症候群 / 転写制御因子 / 脳神経疾患 / マウスモデル / de novo変異 |
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| Outline of Final Research Achievements |
This study was performed to understand how the symptom of Mowat-Wilson syndrome, one of syndromic intellectual disabilities, is developed, using with the model mouse we produced. I found that primary cortical neuron from the model mice showed lowered amplitude of mEPSC. Furthermore, we performed transcriptosome analysis using the model neuron and found the expression change of mRNA comprehensively. Because Mowat-Wilson syndrome is caused by the mutation of ZEB2 gene, which codes transcription factor, these results implicate that the symptom of Mowat-Wilson syndrome would be caused by the change of synaptic function via change of gene expression.
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| Academic Significance and Societal Importance of the Research Achievements |
今回の研究のように知的障害や自閉症スペクトラム障害を含む神経発達障害がどのような分子メカニズムの異常により生じるのかを明らかにしてゆくことは、将来の治療や症状緩和の手法開発の基盤となりうる。
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Report
(5 results)
Research Products
(5 results)
