Background
DM1 is the most common form of adult muscular dystrophy and there is currently no treatment for it. It is caused by a change in the DMPK gene that makes it much larger than it should be. To make proteins, genetic material needs to leave the cell’s nucleus ‒ where DNA is stored. However, when the DMPK gene is too large, it is unable to do this. This means it builds up in the nucleus, which isn’t good for the cell.
Recently, there have been suggestions that an antibiotic called erythromycin could help remove DMPK structures from the nucleus, meaning it could potentially be used as a treatment for DM1. A team of researchers led by Professor David Brook also found that another similar type of macrolide antibiotic called azithromycin (AZM), could work even better than erythromycin. However, more tests are needed to understand how this antibiotic works on DMPK structures and if it can be used to treat DM1.
What this project hopes to achieve
This project aims to test how AZM works on a mouse model of DM1. The researchers will look at different tissues in mice to understand how AZM affects the DMPK structures at a cellular and molecular level. They will also see if the mouse muscle strength can improve following the AZM treatment.
Why this research is important
There is currently no treatment for DM1, and AZM could prove to be a good option for future therapies. The researchers will use the information from this project to inform clinical trials of measurements and outcomes. In the long term, understanding about how AZM works on a molecular level can help to develop improved therapies that target the removal of DMPK structures and help reduce the symptoms of DM1. If AZM shows favourable results in this study, a carefully controlled clinical trial would need to be carried out to make sure that it is a safe treatment option for people with DM1.