Rubén Miranda, Léa Ceschi, Delphine Le Verger, Flora Nagapin, Jean-Marc Edeline, Rémi Chaussenot, Cyrille Vaillend. Social and emotional alterations in mice lacking the short dystrophin gene product, Dp71. Behavioral and Brain Functions. 2024, Volume 20, Article 21. https://behavioralandbrainfunctions.biomedcentral.com/articles/10.1186/s12993-024-00246-x

Duchenne and Becker muscular dystrophies (DMD and BMD) are muscle diseases often linked to cognitive and behavioural difficulties. These problems may be related to the loss of specific proteins called dystrophins, which are made by the DMD gene. One of these proteins, called Dp71, plays an important role in brain function. However, it’s rare for people to have mutations that affect Dp71, making it hard to study its role in behaviour.

To explore this, our researchers studied mice that were genetically modified to lack the Dp71 protein. They observed that these mice showed unusual social behaviour and differences in how they communicated using ultrasonic sounds, which are often used for social interaction. The mice also had slight changes in their exploration and anxiety levels, but their ability to learn and remember fear-related experiences remained normal. Importantly, these behavioural differences were not caused by muscle weakness, since the mice did not have the typical muscle issues seen in DMD.

The findings suggest that losing the Dp71 protein might contribute to social, emotional and autism-related challenges, similar to the symptoms sometimes seen in people with DMD. This research supports the idea that the more dystrophin proteins are lost, the more severe behavioural issues may become. Understanding the role of Dp71 could help improve care for people with DMD who experience cognitive or emotional difficulties.