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Disease models

Canine model for autosomal-recessive myotubular myopathy

Dogs with splicing mutations in bridging integrator 1 (BIN1) could be useful as models to help identify therapies for treating autosomal-recessive myotubular myopathy. Genomic analyses of three patients and five Great Danes with an inherited myopathy identified homozygous BIN1 splicing mutations in skeletal muscle that were not observed in healthy subjects and dogs. Biopsies of muscle tissue from the affected dogs recapitulated multiple markers of disease seen in patient muscle tissue, such as nuclear internalization, fiber atrophy and membrane alterations. Next steps include establishing a population of Great Danes and smaller dog breeds harboring the BIN1 mutation to help elucidate the pathogenesis of myotubular myopathy.

SciBX 6(27); doi:10.1038/scibx.2013.700
Published online July 18, 2013

Unpatented; available for partnering

Böhm, J. et al. PLoS Genet.; published online June 6, 2013;
doi:10.1371/journal.pgen.1003430
Contact: Jocelyn Laporte, Institute of Genetics and Molecular and Cellular Biology, Illkirch, France
e-mail:

jocelyn@igbmc.fr