Functional analysis of TMEM16E gene and gene products

2018 Fiscal Year Final Research Report

• Project/Area Number: 16K11685
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Surgical dentistry
• Research Institution: Hiroshima University
• Principal Investigator: MIZUTA KUNIKO 広島大学, 医系科学研究科(歯), 助教 (40432679)
• Co-Investigator(Kenkyū-buntansha): 飛梅 圭 広島大学, 医歯薬保健学研究科(歯), 准教授 (40350037) ; 久保薗 和美 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): 2016-04-01 – 2019-03-31
• Keywords: TMEM16E / GDD

Outline of Final Research Achievements

In this study, we prepared gene modified mice and analyzed a phenotype as a clue to elucidate the molecular mechanism of TMEM16E-related hereditary disease onset. Furthermore, we generated a monoclonal antibody that specifically recognizes TMEM16E, which is essential for phenotype characterization of mice. As a result, hybridoma clones were identified that could detect strong specific signals using western blot and immunocytostainig of cultured myoblast cells. In addition, one of the clones was also validated to specifically detect better than commercial antibodies in western blot and immunocytostaining of mouse muscle tissues.

Free Research Field

口腔外科

Academic Significance and Societal Importance of the Research Achievements

本研究は，TMEM16E遺伝子の機能および生理的役割を解明することを目的とした．
これまでの研究成果から，TMEM16Eに機能獲得型変異がおこると蛋白の安定性獲得による生理機能発揮がGDDを発症させ，機能喪失型変異により筋疾患が発症することが予想される．
TMEM16Eの活性制御が骨・筋肉の分化および代謝に重要な機能を果たしていることは明らかで，TMEM16Eの機能と安定化調節機構を解明することにより，様々な骨・筋疾患の病態の理解と治療法の開発に役立つことが期待される．