Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog

Neuromuscular Disorders : NMD
E ZucconiM Zatz

Abstract

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.

References

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Citations

Feb 8, 2016·Neuromuscular Disorders : NMD·Mariz VainzofMayana Zatz
Jan 24, 2016·Neuromuscular Disorders : NMD·Ronald D Cohn, Victor Dubowitz
Nov 20, 2015·Cell·Natassia M VieiraMayana Zatz
Apr 5, 2013·The FEBS Journal·Ermelinda Ceco, Elizabeth M McNally
Jan 22, 2011·Journal of Cellular and Molecular Medicine·Joachim BergerPeter D Currie
Mar 17, 2015·Neuromuscular Disorders : NMD·M ZatzT Andrade
Mar 31, 2015·Neuromuscular Disorders : NMD·Natassia M VieiraG Diane Shelton
Jul 23, 2014·Neuromuscular Disorders : NMD·M ZatzM Vainzof
Jul 26, 2011·Journal of Biomedicine & Biotechnology·Eder ZucconiMayana Zatz
Aug 31, 2016·Genetics and Molecular Biology·Mayana ZatzMariz Vainzof
Jan 15, 2011·Veterinary Pathology·L G MiyazatoJ N Kornegay
Jun 21, 2017·Proteomics. Clinical Applications·Stephanie J CarrAndreas Roos
Dec 19, 2013·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Katrin HollingerJoshua T Selsby
Dec 29, 2013·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Mei LiAnders Arner
May 24, 2017·Proceedings of the National Academy of Sciences of the United States of America·Natassia M VieiraLouis M Kunkel
Nov 23, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Matthias R LambertLouis M Kunkel
Apr 8, 2021·Cellular and Molecular Life Sciences : CMLS·Alicja Starosta, Patryk Konieczny
Mar 6, 2015·Disease Models & Mechanisms·Joe W McGreevyDongsheng Duan

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