2019 Fiscal Year Final Research Report

TMEM16E

Research Project

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Project/Area Number	17K17253
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Surgical dentistry
Research Institution	Department of Clinical Research, National Hospital Organization Kure Medical Center
Principal Investigator	Kubozono Kazumi 独立行政法人国立病院機構(呉医療センター臨床研究部), その他部局等, その他 (80750132)
Project Period (FY)	2017-04-01 – 2020-03-31
Keywords	TMEM16E / ANO5 / LGMD2L / GDD / GDD1
Outline of Final Research Achievements	The TMEM16E antibody containing the commercially available product possessed a strong nonspecific reaction even in the absolute negative control TMEM16E knockout mouse, and specific detection of TMEM16E was difficult. In this study, for the purpose of developing a monoclonal antibody that specifically recognizes TMEM16E, a method for immunizing rats by introducing a TMEM16E expression vector in the vicinity of lymph nodes and expressing an antigen was implemented. As a result, it was confirmed that a strong specific signal was detected in cultured myotube cells by Western blotting and immunocyte staining.
Free Research Field	口腔外科
Academic Significance and Societal Importance of the Research Achievements	TMEM16E遺伝子の異なった変異、すなわち機能獲得変異により上下顎の硬化性病変を伴う顎骨骨幹異形成症（GDD）を起こし、機能喪失変異が遅発性の筋ジストロフィーを起こす。本研究ではTMEM16Eを高い信頼度で検出できる抗体の開発を目的とした。TMEM16Eの機能解明が、骨・筋肉疾患の病態解明につながり、TMEM16Eを高い信頼度で検出できるモノクローナル抗体を作製することで臨床診断ツールとして使用可能になる。