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Updated: May 27, 2026

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
Published on: August 10, 2018
[Myotonic dystrophy: therapeutic approaches to RNA toxicity]
Masayuki Nakamori1, Masanori P Takahashi
1Department of Neurology, Osaka University Graduate School of Medicine, Suida, Osaka, Japan.
Abstract:
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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