Functional analysis of a candidate gene for autism spectrum disorder
| Project/Area Number |
25670517
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Psychiatric science
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| Research Institution | Kyushu University |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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| Keywords | 自閉症スペクトラム障害 / クロマチンリモデリング / ノックアウトマウス / 行動 / CHD8 / 行動解析 |
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| Outline of Final Research Achievements |
Autism Spectrum Disorder (ASD) is a functional defect in neuronal development, characterized by communication problems and markedly restricted activity and interest of the patients. Recent several large-scale genome-wide screening studies identified CHD8 (chromodomain-helicase-DNA binding protein 8), a chromatin remodeling factor, as the most frequently mutated gene in ASD patients. We have generated mice heterozygous for CHD8 gene deletion and examined their behavior. A line of behavioral battery tests revealed that CHD8 heterozygous knockout mice exhibited strong anxiety and paradoxical social activities, reminiscent of human ASD. We also studies molecular machinery of the ASD pathogenesis by RNA-seq and ChIP-seq with the use of the next-generation sequencer.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究結果より、CHD8ヘテロ欠損マウスは自閉症スペクトラム障害（ASD）様の症状を示す新規モデルマウスとしてASD研究に利用できることが明らかとなった。これによってASDに対する新たな治療法の探索が容易になることが期待される。具体的には、CHD8欠損によって上昇してくる遺伝子産物に対する阻害剤をスクリーニングし、その中から本当にASDの治療に役立つ化合物を実際のマウス行動によって検証することができるようになるため、非常に社会的意義は大きいと考えられる。
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Report
(2 results)
Research Products
(6 results)
