Muscular dystrophy in the Cavalier King Charles Spaniel.
A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels.
A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels is amenable to Exon 51 Skipping.
In new research published in PLoS ONE on 13th January 2010, veterinary scientists, including Dr Richard Piercy and Gemma Walmsley at the Comparative Neuromuscular Diseases Laboratory of the Royal Veterinary College, have characterized muscular dystrophy in the Cavalier King Charles Spaniel after an affected dog was referred to the Neurology and Neurosurgery Team at the Queen Mother Hospital for Animals.
Duchenne Muscular Dystrophy (DMD) is a painful, debilitating and fatal human genetic muscle disorder. The X-linked condition afflicts 1 in 3500 boys and results from inherited or spontaneous mutations in the dystrophin gene which encodes a structural muscle protein. The disease results in a progressive destruction of skeletal and heart muscles and affected boys are usually wheel-chair bound by their teens and death usually occurs in the twenties following respiratory or heart failure.
Dystrophinopathies are also the most common cause of muscular dystrophy in dogs and have a similarly severe phenotype to the analogous human condition. The precise genetic mutation has only been determined previously in a small number of breeds. Work performed at the Royal Veterinary College found that the underlying defect in Cavalier King Charles Spaniels is in the region of the dystrophin gene that is most commonly mutated in humans. Also, in collaboration with researchers at University College London and the University of California San Diego, we have characterized the disease in three dogs and demonstrated the feasibility of a therapeutic approach that is predicted to ameliorate the severity of disease in many human patients with DMD.
This research complements ongoing human clinical trials into genetic therapies for muscular dystrophy and has the potential to help dogs and boys afflicted with this devastating disorder.
Dr Richard Piercy is a Senior Lecturer in Equine Medicine and Neurology at the Royal Veterinary College. Gemma Walmsley is a PhD student working in the Comparative Neuromuscular Diseases Laboratory.