National Center for Neurology and Phychiatry Department of Molecular Therapy, National Institute of Neuroscience

Research

Muscular dystrophy dog

Our research facility leads investigations on the “canine X-linked muscular dystrophy in Japan (CXMDJ)”, a beagle-based dog model for Duchenne muscular dystrophy (DMD) that has defect in the dystrophin gene. CXMDJ-dystrophic dogs are characterized by a point mutation in the consensus splicing site in intron 6 of the canine dystrophin gene. This alteration causes a skipping of exon 7 and results in a loss of dystrophin protein in the body. Originally, this mutation was identified in the “Golden retriever muscular dystrophy”. It was introduced into beagle to obtain a breed of smaller size, more convenient for animal housing as well as therapeutic approaches.

CXMDJ-dystrophic dogs share common clinical symptoms with patients of DMD, such as skeletal muscle atrophy, joint contracture, lordosis and cardiac, respiratory and gastrointestinal dysfunctions. Therefore, multidirectional analyses in dog are qualified to provide new insights into DMD pathology and therapeutic approaches for patients. Our group has already obtained important finding concerning efficiency and safety of treatments, such as gene therapy, cell transplantation and pharmaceutical trials. Especially, our contribution has led to the realization of human clinical trials on exon skipping therapy (Yokota T, et. al. Ann Neurol. 65: 667-676, 2009).

All our studies are performed with a great care on animal welfare, accordingly to the guidelines provided by the Ethics Committee for the Treatment of Laboratory Middle-Sized Animals of the National Institute of Neuroscience, NCNP.

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