Antisense-mediated exon skipping aiming for reading frame restoration is currently a promising therapeutic application for Duchenne muscular dystrophy (DMD). This approach is mutation specific, but as the majority of DMD patients have deletions that cluster in hotspot regions, the skipping of a smal
Development of Antisense-Mediated Exon Skipping as a Treatment for Duchenne Muscular Dystrophy
โ Scribed by Hans Heemskerk; Christa L. de Winter; Gert-Jan B. van Ommen; Judith C.T. van Deutekom; Annemieke Aartsma-Rus
- Book ID
- 111399372
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 359 KB
- Volume
- 1175
- Category
- Article
- ISSN
- 0890-6564
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## Abstract ## Background Antisenseโmediated exon skipping is a putative treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs), the disrupted DMD reading frame is restored, allowing generation of partially functional dystrophin and conversion of a severe Duchenne
## Abstract ## Background Targeted splice modulation of preโmRNA transcripts by antisense oligonucleotides (AOs) can correct the function of aberrant diseaseโrelated genes. Duchenne muscular dystrophy (DMD) arises as a result of mutations that interrupt the openโreading frame in the DMD gene encod
## Exon skipping to change Duchenne into Becker dystrophy The exon-skipping technique tries to change a Duchenne into a Becker mutation. If a deletion or a point mutation disturbs the reading frame, and thus causes Duchenne dystrophy, the reading frame can be restored by removing one or more exons
Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame. Specific removal of an exon flanking a genomic deletion using antisens