Therapeutic developemt for myotonic dystrophy

2021 Fiscal Year Final Research Report

• Project/Area Number: 16H05321
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: Osaka University
• Principal Investigator: Nakamori Masayuki 大阪大学, 医学系研究科, 特任准教授(常勤) (60630233)
• Project Period (FY): 2016-04-01 – 2021-03-31
• Keywords: 筋強直性ジストロフィー / トリプレットリピート / 核酸医薬 / 核酸標的低分子 / スプライシング / RNA毒性

Outline of Final Research Achievements

Myotonic dystrophy (MyD) is the most common inherited muscle disease in adults, affecting not only skeletal muscle but also multiple organs, including the heart muscle and brain. In this disease, abnormal RNAs transcribed from expanded CTG repeats disrupt splicing regulatory mechanisms and cause widespread splicing abnormalities. In this study, we developed therapeutic strategies using nucleic acid drugs and small molecules targeting the abnormal RNAs, which are central to the pathogenesis of MyD, and demonstrated therapeutic effects in skeletal muscle, cardiac muscle, and central nervous system in animal models.

Free Research Field

神経内科学

Academic Significance and Societal Importance of the Research Achievements

医学だけでなく薬学・化学生物学の革新的技術を応用した本研究の成果により、MyDの全身症状を統合的に改善する包括的治療法確立への道が拓かれた。こうしたMyD治療法の確立は、現在治療法がなく、進行する筋萎縮のため慢性臥床状態となり、呼吸不全や心不全で不幸な転帰をとる世界中の多くのMyD患者（推計総数５０万人程度）の福音となる。