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| Item Type: | Article |
|---|---|
| Title: | Full-length dysferlin transfer by the hyperactive Sleeping Beauty transposase restores dysferlin-deficient muscle |
| Creators Name: | Escobar, H., Schöwel, V., Spuler, S., Marg, A. and Izsvák, Z. |
| Abstract: | Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb. Sleeping Beauty (SB) transposon is a nonviral gene transfer vector, already used in clinical trials. The hyperactive SB system consists of a transposon DNA sequence and a transposase protein, SB100X, that can integrate DNA over 10 kb into the target genome. We constructed an SB transposon-based vector to deliver full-length human DYSF cDNA into dysferlin-deficient H2K A/J myoblasts. We demonstrate proper dysferlin expression as well as highly efficient engraftment (>1,100 donor-derived fibers) of the engineered myoblasts in the skeletal muscle of dysferlin- and immunodeficient B6.Cg-Dysf(prmd) Prkdc(scid)/J (Scid/BLA/J) mice. Nonviral gene delivery of full-length human dysferlin into muscle cells, along with a successful and efficient transplantation into skeletal muscle are important advances towards successful gene therapy of dysferlin-deficient muscular dystrophy. |
| Keywords: | Dysferlin, Gene Therapy, Myoblast Transplantation, Sleeping Beauty Transposon, Animals, Mice |
| Source: | Molecular Therapy - Nucleic Acids |
| ISSN: | 2162-2531 |
| Publisher: | Nature Publishing Group |
| Volume: | 5 |
| Page Range: | e277 |
| Date: | 19 January 2016 |
| Official Publication: | https://doi.org/10.1038/mtna.2015.52 |
| PubMed: | View item in PubMed |
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