Artículos de revistas
Aspectos relevantes da distrofia muscular do Golden Retriever para o estudo da distrofia muscular de Duchenne em humanos
Date
2017-01-01Registration in:
Ciencia Rural, v. 47, n. 10, 2017.
1678-4596
0103-8478
10.1590/0103-8478cr20160470
S0103-84782017001000503
2-s2.0-85028954609
S0103-84782017001000503.pdf
Author
Universidade Estadual Paulista (Unesp)
Faculdade Meridional (IMED)
Pontifícia Universidade Católica do Paraná (PUC-PR)
Institutions
Abstract
Golden Retriever muscular dystrophy (GRMD) is the most representative model for studying Duchenne muscular dystrophy (DMD) in humans, owing its phenotypic expression. DMD is a recessive disorder linked to the X chromosome in which the loss of dystrophin induces progressive weakness and degeneration of the skeletal and cardiac muscles, which lead to replacement by connective and adipose tissues. Onset of clinical signs occurs between 2 and 5 years of age, and many patients die from heart or respiratory failure. The main studies concerning dystrophic Golden Retrievers (DGR) sought to elucidate the pathophysiology of the disease and its clinical implications to develop therapies and alternative treatments to improve the quality of life and increase longevity of DMD patients. This review presents an overview of relevant contributions of the DGR model for elucidating DMD in humans.