How can exon skipping be used to treat Duchenne muscular dystrophy?
The idea behind exon skipping is to mask specific exons in a gene sequence. In DMD patients, one or more exons can be masked with artificial pieces of mRNA that work like patches at the place in the DMD gene where one or more exons are missing, breaking the ability of the remaining exons to link together.
What happens if an exon is skipped?
Most commonly, one or more exons (parts of the gene) are missing, causing errors in the instructions for making dystrophin. This results in the body not being able to produce enough—or any—working dystrophin protein. The goal of exon skipping is to allow the body to make a shorter form of the dystrophin protein.
What is the goal of exon skipping drugs for DMD?
The goal of exon skipping is to change the splicing pattern so that an out-of-frame, DMD-type mutation becomes an in-frame, BMD-type mutation. For example, skipping exon 51 of the dystrophin gene could restore the “reading frame” in patients who have specific out-of-frame deletions in some dystrophin exons.
What is an exon skipping drug?
Exon skipping uses small drugs called antisense oligonucleotides to help cells skip over a specific exon during splicing. This allows cells to join a different set of exons together to produce a protein that is shorter than usual but may have some function.
What is exon 53 skipping?
About Vyondys 53 Exon skipping is a treatment strategy in which sections of genetic code are “skipped” (spliced out, or left out) during the protein manufacturing process, allowing cells to create shortened but partially functional dystrophin protein, the muscle protein missing in DMD.
Is exon skipping gene therapy?
Mechanism and application of exon skipping Exon skipping has emerged as a potential therapy for DMD patients, the objective being to restore the dystrophin protein, altering the DMD phenotype into a less severe BMD [29].
Is exon skipping considered gene therapy?
Exon skipping is one of the most promising gene therapy approaches for the treatment of DMD.
Can exons be removed?
Genes are divided into introns and exons. Exons code for specific proteins, whilst introns are non-coding (they are sometimes referred to as ‘junk DNA’) and are removed by RNA splicing. The remaining exons are then covalently bonded together to generate messenger RNA.
What diseases can exon skipping cure?
Table 2
| Description of set of in-frame deletion patterns | No. DMD | DMD % |
|---|---|---|
| Start from exon 49 | 11 | 92 |
| Start from exon 50 | 9 | 90 |
| End at exon 46 | 2 | 18 |
| End at exon 47 | 20 | 17 |
What is exon deletion?
Deletions occur when pieces of the gene (called exons) are missing. Deletions of one or more exons are the most common type of mutation. Since there are a total of 79 exons in the dystrophin gene, there are many different deletions that can occur.