Validation of a treatment evaluation system for muscular dystrophy using urinary splicing products as biomarkers

2023 Fiscal Year Final Research Report

• Project/Area Number: 20K08221
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Hyogo Medical University
• Principal Investigator: TANAKA Yasuhiko 兵庫医科大学, 医学部, 非常勤講師 (20595045)
• Co-Investigator(Kenkyū-buntansha): 李 知子 兵庫医科大学, 医学部, 准教授 (10596042) ; 下村 英毅 兵庫医科大学, 医学部, 准教授 (30441273) ; 竹島 泰弘 兵庫医科大学, 医学部, 教授 (40281141) ; 奥野 美佐子 兵庫医科大学, 医学部, 助教 (60646553)
• Project Period (FY): 2020-04-01 – 2024-03-31
• Keywords: Duchenne型筋ジストロフィー / エクソンスキッピング / extracelluar RNA / アンチセンスオリゴヌクレオチド

Outline of Final Research Achievements

The clinical application of a therapy that induces exon skipping for Duchenne Muscular Dystrophy (DMD) has begun. This therapy is currently the most proven and effective curative treatment. However, the lack of a biomarker to evaluate its effectiveness is an obstacle to promoting this treatment. We believe that by analyzing mRNA derived from patient urine, it is possible to create a system to non-invasively and easily evaluate the effectiveness of exon skipping induction therapy in individual cases. It is expected that the results of this research will greatly advance exon skipping induction therapy, which is about to be applied clinically.

Free Research Field

代謝性疾患

Academic Significance and Societal Importance of the Research Achievements

血中RNA(extracellular RNA: exRNA)におけるスプライシングパターンを解析するシステムの構築とともに、AS-oligo投与症例におけるジストロフィンRNAスプライシングパターンの解析を行った。エクソンスキッピング療法を行うにあたり、より信州の少ない治療評価方法の確立に寄与した。