Analysis of Mowat-Wilson syndrome using model mouse

2019 Fiscal Year Final Research Report

• Project/Area Number: 16K09980
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Institute for Developmental Research Aichi Developmental Disability Center
• 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)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Keywords: Mowat-Wilson syndrome / Zn finger / transcription factor / haploinsufficiency / de novo mutation / ZEB2

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.

Free Research Field

小児科学

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。