BIND researchers provide a model for studying learning and behaviour challenges in Duchenne MD

The presence and severity of learning weaknesses and behavioural disturbances is highly variable among patients affected by Duchenne muscular dystrophy (DMD), which is believed to depend on the position of the mutation within the dystrophin (DMD) gene. The exon-52-deleted mdx52 mouse is a critical model of DMD, as it features a deletion in a hotspot region of the DMD gene. This means the gene mutation is relatively common in people affected by DMD.

Deletion of exon 52 hinders the expression of several brain dystrophins. For this reason, this provides a key model for studying the cognitive impairment that are linked to DMD and testing rescuing strategies.

The findings of the French BIND partner groups (Dr C Vaillend, Paris-Saclay Institute of Neuroscience – Centre National de la Recherche Scientifique, in collaboration with A Goyenvalle, laboratory Biothérapies des Maladies Neuromusculaires, Université de Versailles St-Quentin-en-Yvelines) are now published in the journal Disease Models and Mechanisms.

For more information on the research paper, click here.