Question: Could you potentially prevent muscular dystrophy?

Elliot Jokl answered on 22 Jun 2016:

Thanks for the question!

Maybe not me personally! But there are lots of teams of scientists working on this, and I think it is possible.

So the one of the most common forms of muscular dystrophy is called Duchenne’s muscular dystrophy. I don’t work on this one, but it is probably the form with the most promising research being done on it. This disease happens because of a mutation in the gene that makes the protein dystrophin.

So when your body makes proteins, it makes a copy of the DNA sequence in an RNA molecule, which a machine called a ribosome reads and uses to make a protein until a special code in the sequence to tell it to stop. What happens in Duchenne’s is that the mutation creates one of these special stop sequences in the middle of the gene, so the ribosome stops reading the sequence early and you don’t get the full protein. This causes the disease.

What scientists have had some good success with is getting muscle cells to ignore the mutated part of the gene when it is making the RNA, so you don’t get this early stop sequence. This is called exon skipping, and there is a more detailed explanation of this in the website below, which explains it more clearly than I can! But the result is that you can get enough dystrophin to hopefully keep the muscles healthy.

http://www.musculardystrophyuk.org/progress-in-research/background-information/what-is-exon-skipping-and-how-does-it-work/

There have been some good results in mice, and clinical trials are ongoing, so we will soon know if it works well in people too. Exciting, right?