Zarrouki, F., Relizani, K., Bizot, F., Tensorer, T., Garcia, L., Vaillend, C., & Goyenvalle, A. (2022). 

Annals of neurology, 92(2), 213–229. 

Lay Summary

Duchenne Muscular dystrophy (DMD) is a genetic disorder that primarily affects muscles, causing muscle weakness and degeneration. However, recent studies have suggested that it may also impact the brain, leading to cognitive and behavioural deficits. The underlying cause of the disease is a mutation in a gene called DMD, which results in the absence or abnormality of the dystrophin protein.

The paper titled “Partial Restoration of Brain Dystrophin and Behavioural Deficits by Exon Skipping in the Muscular Dystrophy X-Linked (mdx) Mouse” aimed to explore the potential of a therapeutic approach called exon skipping to partially restore dystrophin production in the brain and alleviate behavioural deficits in a mouse model of DMD, named the mdx mouse.

Exon skipping is a technique that involves targeting specific regions of the mutated gene and “skipping” them during the process of protein production. In this study, researchers used exon skipping to selectively skip certain exons in the dystrophin gene of mdx mice, with the goal of restoring the production of a partially functional dystrophin protein in the brain.

The findings of the study demonstrated that exon skipping led to a partial restoration of dystrophin expression in the brain of mdx mice. This partial restoration of dystrophin in the brain was shown to mitigate some of the behavioural deficits associated with mdx. The study highlights the potential of exon skipping as a therapeutic strategy for mdx, not only for its effects on muscle function but also for its impact on brain-related symptoms. By restoring dystrophin expression in the brain, exon skipping shows promise in improving cognitive and behavioural outcomes for individuals with DMD.

While further research is needed to optimize the efficacy and safety of exon skipping approaches, this study offers hope for the development of novel treatments that could improve the overall quality of life for individuals affected by DMD.