Pathological analysis of Opitz G/BBB syndrome

2017 Fiscal Year Final Research Report

• 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
• 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.

Free Research Field

耳鼻咽喉科学