Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog.
Of the various genetic homologues to Duchenne Muscular Dystrophy (DMD), the Golden Retriever Muscular Dystrophy (GRMD) dog, which presents a variable but usually severe and progressive muscle weakness, has the closest relevance to DMD in both clinical severity and histopathological change. Among 77 GRMD dogs born in our colony in Brazil, we have identified a very mildly affected dog, Ringo, born July 2003. Among his descendants, at least one male, Suflair, is also showing a mild course. In an attempt to better characterize these two dogs, we studied the pattern of muscle proteins expression in Ringo and Suflair, as compared to severely affected and normal control dogs. Dystrophin was absent in both and utrophin was overexpressed in a pattern similar to the observed in severely affected dogs. Understanding the mechanism that is protecting Ringo and Suflair from the deleterious effect of the dystrophin gene mutation is of utmost interest. In addition it points out that the clinical impact of therapeutic trials should be interpreted with caution.
Zucconi
Eder
E
Human Genome Research Center, Department of Genetic and Evolutive Biology, University of São Paulo, São Paulo, SP, Brazil.
Valadares
Marcos Costa
MC
Vieira
Natássia M
NM
Bueno
Carlos R
CR
Secco
Mariane
M
Jazedje
Tatiana
T
da Silva
Helga Cristina Almeida
HC
Vainzof
Mariz
M
Zatz
Mayana
M
D000818:Animals; D001938:Brazil; D018450:Disease Progression; D004285:Dogs; D016189:Dystrophin / Q000235:genetics / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology*; D009137:Muscular Dystrophy, Animal / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans / Q000378:metabolism; D012720:Severity of Illness Index; D013045:Species Specificity; D049411:Utrophin / Q000378:metabolism
D016189:Dystrophin; D049031:Sarcoglycans; D049411:Utrophin