Doisy, Mathilde et al. Biomedicines vol. 11,12 3243. 7 Dec. 2023, doi:10.3390/biomedicines11123243 

The study titled ‘Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model,’ published in the journal Biomedicines, looks at new treatments for Duchenne muscular dystrophy (DMD). DMD is a serious genetic disorder that causes muscles to get weaker over time because of changes in the DMD gene, leading to a lack of dystrophin protein.

The researchers wanted to study the brain problems in DMD, such as trouble with thinking and other brain issues. They used a special mouse, the mdx52 mouse, which has the same gene mutation as humans with DMD. The study mainly looked at exon 53 skipping, a way for cells to ignore or skip over the affected part of the gene, to try to fix two important brain proteins, Dp427 and Dp140.

Even though skipping exon 51 worked well before, skipping exon 53 was much harder in this mouse model. The team had to use many antisense oligonucleotides (ASOs) to get good levels of exon 53 skipping. They reached up to 25% exon skipping in the hippocampus of the treated mice, but this didn’t lead to enough protein restoration. This shows how difficult the method is and how important the choice of the mouse model is.

This study shows the challenges and possible ways to treat the brain problems in DMD, highlighting the need for more research to find the best treatments.