BRAIN and NERVE Shinkei Kenkyu no Shinpo Volume 63, Issue 11 (November 2011)

Myotonic Dystrophy: Therapeutic Approaches to RNA Toxicity Masayuki Nakamori 1,2 , Masanori P. Takahashi 1 1Department of Neurology,Osaka University Graduate School of Medicine 2Department of Neurology,University of Rochester Medical Center Keyword: myotonic dystrophy , splicing , MBNL1 , CELF1 , antisense pp.1161-1168
Published Date 2011/11/1
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 Myotonic dystrophy (DM) is the most common hereditary muscle disease in adults,caused by unstable genomic expansions of simple sequence repeats. The mutant RNA transcripts containing the expanded repeat give rise to a toxic gainoffunction by perturbing splicing factors in the nucleus,leading to the misregulation of alternative pre-mRNA splicing. Although no curative treatment exists,recent advances in research and pharmaceutical technology have provided clues for therapeutic intervention in DM. Herein,we review the RNA-dominant mechanism of DM and potential therapeutic approaches for degrading or neutralizing the toxic RNA,restoring splicing factors,correcting splicing misregulation,and stabilizing the repeat.

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BRAIN and NERVE-神経研究の進歩
63巻11号 (2011年11月)
電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院