2020 Fiscal Year Final Research Report
Synapse function and social interaction disfunction
| Project/Area Number |
17K16279
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Jichi Medical University |
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Principal Investigator |
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| Project Period (FY) |
2017-04-01 – 2021-03-31
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| Keywords | 自閉症スペクトラム / 発達障害 / エクソーム / Timeless |
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| Outline of Final Research Achievements |
We performed aCGH, TrueSightOne, and exosome analysis for autism spectrum disorders (ASD) and developmental disorders. Gene mutations such as ADIR1B, DYNC1H1, and SHANK2 were detected. We report a case of ASD without cortical dysplasia of DYNC1H1. We also identified mutations in GAP43 in patients with short stature and developmental disabilities. GAP43 is a growth factor-related protein that is important for nerve regeneration. Sequencing analysis of 60 cases did not identify mutations. The involvement of cortical formation is being analyzed.
Significant differences in sociality were obtained in Timeless knockout mice, and analysis is ongoing. In addition, the introduction of iPS mutations is possible efficiently, and neural differentiation is an issue for the future.
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| Free Research Field |
小児神経
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| Academic Significance and Societal Importance of the Research Achievements |
自閉症、発達障害は罹患率が高く、原因遺伝子は多岐にわたり、新たな病因遺伝子の同定は病因解明の第一歩となる。家族で遺伝子の共有にかかわらず、症状の有無が異なる例があり、検出した遺伝子の機能の評価法の確立も重要な課題である。iPSでの機能解析については神経分化が成功していないが、重要な課題であり今後も継続取り組んでいく。オキシトシン関連物質の治験は患者さんにとっては最も興味深く、社会的意義は大きい。
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