Location: Reproduction ResearchTitle: Dystrophin insufficiency causes a Becker muscular dystrophy-like phenotype in swine Author
|Hollinger, Katrin - Iowa State University|
|Yang, Cai-xia - Iowa State University|
|Ross, Jason - Iowa State University|
|Nonneman, Danny - Dan|
|Selsby, Joshua - Iowa State University|
Submitted to: Journal of Federation of American Societies for Experimental Biology
Publication Type: Abstract Only
Publication Acceptance Date: 4/20/2013
Publication Date: 4/20/2013
Citation: Hollinger, K., Yang, C.-X., Ross, J.W., Rohrer, G.A., Nonneman, D., Selsby, J.T. 2013. Dystrophin insufficiency causes a Becker muscular dystrophy-like phenotype in swine [abstract]. Journal of Federation of American Societies for Experimental Biology. 27:1147.6.
Technical Abstract: Duchenne muscular dystrophy (DMD) is caused by a dystrophin deficiency while Becker MD is caused by a dystrophin insufficiency or expression of a partially functional dystrophin protein. Deficiencies in existing mouse and dog models necessitate the development of a novel large animal model. Our purpose in this investigation is to characterize diaphragm and heart muscles taken from 8 wk male pigs with a dystrophin insufficiency and healthy male littermates (HML). Dystrophin protein expression was decreased 63% in diaphragms and 70% in hearts from BMD pigs compared to HML by Western blot. These findings were supported by immunohistochemistry (IHC). Primers directed against the 3’ end of the gene showed a 61% and 34% reduction in gene expression in the diaphragm and heart, respectively, in BMD pigs compared to HML. Consistent with the human disease, dystrophin insufficiency was associated with a 3-fold increase in serum creatine kinase activity compared to HML and focal necrosis with fibrosis and fatty infiltration in diaphragms and hearts. These data support that this pig line exhibits a phenotype consistent with BMD and should be considered as a translational and preclinical model. This research was supported by the USDA and NIH.