There are many types of mutations that cause Duchenne. This page lists some of the rarer mutations that cause Duchenne. If you have questions about a specific mutation, or your mutation type isn’t listed here please email Neil or call us and we can provide more details.
The dystrophin gene
Duchenne is a genetic condition. This means the condition is caused by genetic mutations – alterations or changes – in a gene. Duchenne is caused by mutations in a single gene called the dystrophin gene. These mutations prevent cells from producing the dystrophin protein which is needed for muscle function.
Genes are the instructions that allow a cell to make a protein and the dystrophin gene is the biggest in human cells. Genes are formed of exons – pieces of DNA that hold the information. The dystrophin gene has 79 exons that contain more than 10,000 letters of DNA code
Splice site mutations
When a gene is read, the cell must join together all 79 exons to make a continuous message. If you imagine a gene is a recipe, the cell must remove all the information not required to produce the protein (like the pictures in a recipe book). This process – where exons are joined together is called splicing.
Mutation that change a site where splicing should happen can prevent a cell reading a gene properly.
Pseudo-exon insertion
Mutations between the exons of the dystrophin gene can sometimes lead to an addition piece of DNA being included during splicing. This extra piece of DNA (called a pseudo-exon) can prevent the cell reading a gene correctly.
Which treatments might help?
There are currently no treatments in the clinic or being tested in clinical trials that specifically target these rare types of mutation.
However, everybody living with Duchenne will be offered corticosteroid treatment. There are also potential treatments designed to work regardless of mutation type are being tested in clinical trials. You can find out more about approaches to treating Duchenne caused by point mutations on our information pages about:
- Steroid replacements
- Gene therapy
Got a question?
If you’ve got a question, we’re happy to help. You can get in touch by emailing Neil (our Head of Research) or call us on 02072508240.
