2017 Fiscal Year Final Research Report
Pathological analysis of Opitz G/BBB syndrome
Project/Area Number |
16K20271
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Otorhinolaryngology
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Research Institution | Kyoto Prefectural University of Medicine |
Principal Investigator |
Nakamura Takashi 京都府立医科大学, 医学部附属病院, 研究員 (80724179)
|
Project Period (FY) |
2016-04-01 – 2018-03-31
|
Keywords | 小脳顆粒細胞 / Rac1 / Mid1 / mTORC1 |
Outline of Final Research Achievements |
We analyzed the Rac1/3 double (conditional) knockout mice using histological and molecular biological approaches. The mice exhibit layered structural abnormality in cerebellar vermis that is similar to Opits G/BBB syndrome characterized by systemic midline malformations. In this study, we found that the actin cytoskeleton regulatory molecule Rac1 regulates Mid1-mTORC1 signaling. And we showed that Mid2 was involved in the migration of cerebellar granule neurons. Mid2 may contribute to the mediolateral difference in Rac1/3 double knockout mice, and we believe that these findings lead to elucidate the pathogenesis of Opitz G/BBB syndrome.
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Free Research Field |
耳鼻咽喉科学
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