BRAIN and NERVE Shinkei Kenkyu no Shinpo Volume 69, Issue 1 (January 2017)

Myotonic Dystrophy: Advances in Translational Research Masayuki Nakamori 1 , Masanori P. Takahashi 1,2 1Department of Neurology, Osaka University Graduate School of Medicine 2Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine Keyword: スプライシング , MBNL , 核酸医薬 , アンチセンス , 低分子化合物 , splicing , MBNL , antisense oligonucleotides , small molecule pp.61-69
Published Date 2017/1/1
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Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults, which is caused by unstable genomic expansions of CTG or CCTG repeats. Mutant RNA transcripts containing the expanded repeats cause toxic gain-of-function by perturbing splicing factors in the nucleus, resulting in misregulation of alternative pre-mRNA splicing. Recent advances in basic and translational research and pharmacological approaches have provided clues for therapeutic intervention in DM. Herein, we review the RNA-dominant mechanism of DM and therapeutic approaches for targeting the toxic RNA.

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BRAIN and NERVE-神経研究の進歩
69巻1号 (2017年1月)
電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院