CALEB, living With Duchenne.
Exon Skipping
Exon Skipping Strategies
Many people with Duchenne have a genetic mutation in which one or more exons (a portion of a gene) in the dystrophin gene are missing.
The dystrophin gene is the largest gene in the body and is made up of 79 exons that are linked together to form the instructions for making dystrophin. Most commonly, Duchenne is caused by a genetic mutation in which one or more exons are missing.
Due to the mutations in the dystrophin gene, the exons are not able to link together. When the exons are not linked, the body does not have the instructions to produce dystrophin.
Exon skipping involves skipping over certain exons so the body can make a shorter form of dystrophin.
Why do we need to skip exons?
Think of the exons like toy train cars, each with a special connection that allows one car to connect to another. The connections between cars must match, so they can connect to one another.
Missing exons, caused by mutations in the dystrophin gene, are like missing train cars. When one or more cars are missing, the connections between them no longer line up.
Exon skipping allows the body to skip over the exon next to the mutation restoring the connection so the body can make a shorter form of dystrophin. Learn more about the importance of dystrophin.