Genetic correction of splice site mutation in purified and enriched myoblasts isolated from mdx5cv mice |
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| Authors: | Katie Maguire Takayuki Suzuki Darlise DiMatteo Hetal Parekh-Olmedo and Eric Kmiec |
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| Institution: | (1) Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA;(2) Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA |
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| Abstract: | Background Duchenne Muscular Dystrophy (DMD) is an X-linked genetic disorder that results in the production of a dysfunctional form of
the protein, dystrophin. The mdx5cv mouse is a model of DMD in which a point mutation in exon 10 of the dystrophin gene creates an artificial splice site. As
a result, a 53 base pair deletion of exon 10 occurs with a coincident creation of a frameshift and a premature stop codon.
Using primary myoblasts from mdx5cv mice, single-stranded DNA oligonucleotides were designed to correct this DNA mutation. |
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