Improvement of the nonsense read-through therapy for muscular dystrophy by controlling nonsense mediated mRNA decay

Research Project

Project/Area Number	15K19641
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Pediatrics
Research Institution	Hyogo Medical University
Principal Investigator	LEE TOMOKO 兵庫医科大学, 医学部, 助教 (10596042)
Project Period (FY)	2015-04-01 – 2018-03-31
Project Status	Completed (Fiscal Year 2017)
Budget Amount *help	¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000) Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000) Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000) Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords	Duchenne型筋ジストロフィー / ナンセンス変異依存性mRNA分解 / リードスルー治療 / リードスルー / ナンセンス変異
Outline of Final Research Achievements	The purpose of this study is to control nonsense-mediated mRNA decay（NMD）mechanism and improve the efficacy of read-thorough therapy for Duchenne muscular dystrophy (DMD). First, the system of identifying small mutations in DMD gene was constructed. Using this system, many DMD cases with nonsense mutation have been identified. Furthermore, the analysis system using fluorescent sequencer was developed for semi-quantitative analysis of mRNA from muscle. Based on these established systems, analysis to reveal and control NMD mechanism has been performed.