Feasibility of Multiexon Skipping for Duchenne Muscular Dystrophy
Author Information
Author(s): Laura van Vliet, Christa L de Winter, Judith CT van Deutekom, Gert-Jan B van Ommen, Annemieke Aartsma-Rus
Primary Institution: Leiden University Medical Center
Hypothesis
The splicing order might favor the induction of multiexon 45–55 skipping.
Conclusion
Current state of the art does not sufficiently support clinical development of multiexon skipping for DMD.
Supporting Evidence
- Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy.
- Different mutations require skipping of different exons, making the therapy mutation specific.
- The study found that multiexon skipping levels could not be increased beyond naturally occurring levels.
Takeaway
The study tried to skip parts of a gene to help kids with a muscle disease, but it didn't work as well as hoped.
Methodology
The feasibility of inducing multiexon 45–55 skipping was tested in control and patient muscle cell cultures using various AON cocktails.
Limitations
The levels of intended multiexon skips were minimal and comparable to untreated cells.
Participant Demographics
Myotube cultures from a healthy individual and two Duchenne patients.
Digital Object Identifier (DOI)
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