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

2017 Fiscal Year Final Research Report

• 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
• 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

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.

Free Research Field

遺伝性筋疾患