Sentences with phrase «dystrophin exon»
Could this approach work with dystrophin exon skipping?
http://blog.addgene.org/ Not exact matches
In the study, researchers worked with a mouse model that has a debilitating mutation on one of the exons of the dystrophin gene.
The exact mutation varies from patient to patient but in 65 percent of cases, the dystrophin gene is missing large sections of DNA called exons, which carry the instructions for protein production.
The team led by biomedical engineering professor Charles A. Gersbach used a mouse model suffering from a mutated exon of the dystrophin gene, programming CRISPR / CAS9 — a bacterial - protein derived process of cutting and pasting DNA portions — to snip out the defective exon.
Researchers demonstrate how CRISPR / Cas9 - mediated exon skipping, or myoediting, may rescue dystrophin function in a majority of Duchenne muscular dystrophy patients
Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases.
In a subsequent study, they used CRISPR with two gRNAs to delete exon 51 or exons 45 - 55 in patient myoblasts; when injected into DMD mice, these cells expressed functional dystrophin.
They observed a 13 % removal rate of exon 51, which resulted in appropriately localized dystrophin.
Within the mutational hotspot for dystrophin, exons 45 - 55, there are multiple common deletions that maintain the protein's reading frame, leading to the production of a smaller, but at least partially functional protein.
The dystrophin gene is very large (79 exons), but much of the sequence appears to be nonessential.
Although Nelson et al. observed only 2 % genome editing in one experiment, they found the exon - skipped transcript constituted 59 % of total dystrophin mRNA, similar to the 39 % observed by Tabebordbar et al..
Clinical trials have used oligonucleotide exon skipping (OEN) to remove mutated exons from the dystrophin transcript.
If any one exon gets a debilitating mutation, the chain does not get built.Without dystrophin providing support, muscle tends to shred and slowly deteriorate.Duchenne affects one in 5,000 newborn males.