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In Vitro Assays to Assess Exon Skipping in Duchenne Muscular Dystrophy
Prisca Boisguerin1, Liz O'Donovan, Michael J Gait
1Centre de Recherche de Biochimie Macromoléculaire, UMR 5235 CNRS, Université Montpellier, Montpellier, France.
Methods in Molecular Biology (Clifton, N.J.)
|July 24, 2015
Summary
Cell-penetrating peptides deliver phosphorodiamidate morpholino oligomers for Duchenne muscular dystrophy therapy. This study details methods to assess exon skipping efficiency and cellular trafficking of Pip6a-PMO conjugates.
Area of Science:
- Biochemistry
- Molecular Biology
- Genetics
Background:
- Cell-penetrating peptide (CPP)-mediated delivery of phosphorodiamidate morpholino oligomers (PMO) shows promise for Duchenne muscular dystrophy (DMD) therapy via exon skipping.
- Variability in CPP efficiency and tissue delivery necessitates understanding cellular trafficking for optimal therapeutic outcomes.
Purpose of the Study:
- To detail experimental procedures for monitoring exon skipping efficiency and cellular trafficking of Pip6a-PMO conjugates.
- To provide a framework for evaluating oligonucleotide delivery and activity in various cell types and disease models.
Main Methods:
- Utilized skeletal H2k cells and primary cardiomyocytes from mdx mice for experimental evaluation.
- Developed and applied methods to assess exon skipping efficacy and track cellular uptake of Pip6a-PMO.
Main Results:
- Pip6a-PMO demonstrated efficient exon skipping and cellular trafficking in the tested models.
- Established robust experimental protocols for evaluating oligonucleotide-based therapies.
Conclusions:
- The described methodologies enable comprehensive assessment of CPP-PMO conjugates for DMD and other genetic disorders.
- Understanding cellular trafficking is crucial for optimizing the efficacy of oligonucleotide therapeutics.
