PHYSCI 121 Lecture Notes - Lecture 10: Exon Skipping, Dystrophin, Nonsense Mutation
Document Summary
Rescues allow for more fibers to form: dystrophin protein in revertant fibers has partial functionality, can associate with and rescue dgc at sarcolemma. Exon 23 was always deleted to get rid of mutation and make the rest of the protein. Spliced in frame mrnas predicted from exon mapping are readily detected by rt-pcr (supports exon skipping: detection of genomic sequence (exons 22 25) in nuclei of revertant fibers (argues against genomic deletion and in favor of exon skipping) More staining in the wt mouse due to dystrophin than the mdx muscles. Exon skipping has lead to rescue of dystrophin proteins in other proteins, not to the same degree as other muscles but it is a start. Morpholino exon skipping diagram shows that dystrophin in wt is present. It also shows the protein were rescued and produced as expected. Contractures are permanent shortening and hardening of muscles and tendons which lead to rigidity in joints.
