Pathological analysis of Opitz G/BBB syndrome

Research Project

Project/Area Number	16K20271
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Otorhinolaryngology
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
Project Status	Completed (Fiscal Year 2017)
Budget Amount *help	¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000) Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000) Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords	小脳顆粒細胞 / Rac1 / Mid1 / mTORC1 / Mid2 / OpitzG/BBB症候群 / 脳・神経 / Opitz G/BBB症候群
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.

Report

(3 results)