Journal
JOURNAL OF PERSONALIZED MEDICINE
Volume 7, Issue 4, Pages -Publisher
MDPI
DOI: 10.3390/jpm7040013
Keywords
Duchenne/Becker muscular dystrophy (DMD/BMD); antisense oligonucleotide-mediated exon skipping therapy; hDMD mice; human telomerase reverse transcriptase (hTERT); cyclin-dependent-kinase 4 (Cdk4); phosphorodiamidate morpholino oligomers (PMOs or morpholinos); C2C12; dystrophin-glycoprotein complex (DGC); golodirsen (SRP-4053); NS-065/NCNP-01
Funding
- University of Alberta Faculty of Medicine and Dentistry
- Parent Project Muscular Dystrophy USA
- Canadian Institutes of Health Research [FRN134134, 132574]
- Friends of Garrett Cumming Research Funds
- HM Toupin Neurological Science Research Funds
- Muscular Dystrophy Canada
- Canada Foundation for Innovation [30819]
- Alberta Enterprise and Advanced Education
- Women and Children's Health Research Institute
- Alberta Innovates-Health Solutions
- Japan Society for the Promotion of Science
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Duchenne muscular dystrophy (DMD) is a lethal genetic disorder that most commonly results from mutations disrupting the reading frame of the dystrophin (DMD) gene. Among the therapeutic approaches employed, exon skipping using antisense oligonucleotides (AOs) is one of the most promising strategies. This strategy aims to restore the reading frame, thus producing a truncated, yet functioning dystrophin protein. In 2016, the Food and Drug Administration (FDA) conditionally approved the first AO-based drug, eteplirsen (Exondys 51), developed for DMD exon 51 skipping. An accurate and reproducible method to quantify exon skipping efficacy is essential for evaluating the therapeutic potential of different AOs sequences. However, previous in vitro screening studies have been hampered by the limited proliferative capacity and insufficient amounts of dystrophin expressed by primary muscle cell lines that have been the main system used to evaluate AOs sequences. In this paper, we illustrate the challenges associated with primary muscle cell lines and describe a novel approach that utilizes immortalized cell lines to quantitatively evaluate the exon skipping efficacy in in vitro studies.
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