IMR Press / FBL / Volume 20 / Issue 8 / DOI: 10.2741/4367

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Gene and splicing therapies for neuromuscular diseases
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1 Laboratory Biotherapies des Maladies Neuromusculaires, INSERM U1179, UFR des sciences de la sante Simone Veil, Universite de Versailles Saint Quentin, France
Front. Biosci. (Landmark Ed) 2015, 20(8), 1190–1233;
Published: 1 June 2015

Neuromuscular disorders (NMD) are heterogeneous group of genetic diseases characterized by muscle weakness and wasting. Duchenne Muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) are two of the most common and severe forms in humans and although the molecular mechanisms of these diseases have been extensively investigated, there is currently no effective treatment. However, new gene-based therapies have recently emerged with particular noted advances in using conventional gene replacement strategies and RNA-based technology. Whilst proof of principle have been demonstrated in animal models, several clinical trials have recently been undertaken to investigate the feasibility of these strategies in patients. In particular, antisense mediated exon skipping has shown encouraging results and hold promise for the treatment of dystrophic muscle. In this review, we summarize the recent progress of therapeutic approaches to neuromuscular diseases, with an emphasis on gene therapy and splicing modulation for DMD and SMA, focusing on the advantages offered by these technologies but also their challenges.

Neuromuscular disorders
Gene therapy
Viral vectors
Splicing modulation
Exon skipping
Exon Inclusion
Antisense Oligonucleotides
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