Advances in Canine Genetics
Significant advances are being made in canine genetics increasing our understanding of inherited disease. Presently the only genetic disease markers identified for Bouviers are: exercise induced collapse (EIC), short tail syndrome (bob tail) and degenerative myelopathy (DM).
DM A genetic mutation SOD-1, appears to be a factor for developing DM. It is a disease that causes progressive muscle weakness and loss of coordination especially in the hind legs in middle age dogs. For more information on DM: https:// neurology.vetmed.ucdavis.edu/neuro-disorders/degenerative-myelopathy
EIC is caused by a mutation of DNM1 gene. The overall frequency in Bouviers is unknown, however a Belgian study of 107 European Bouviers showed that 3.5% of the dogs were carriers of the EIC mutation. BHF is interested in investigating the prevalence of EIC in the bouvier population in the United States. See information on our website about EIC and how to get your dog tested. https://www.bouvierhealthfoundation.org/news-2
Bob Tail a naturally occurring mutation in the T-box transcription factor T gene that results in a shortened tail. For more information: https://vgl.ucdavis.edu/test/natural- bobtail.
Currently the BHF is working diligently on identifying genetic markers for the genetic diseases of primary closed angle glaucoma (PCAG) and subvalvular aortic stenosis (SAS).
PCAG (Primary Closed Angle Glaucoma) is a painful, eye disease that causes a rapid increase in eye pressure and blindness. BHF is currently conducting research with the University of Missouri Canine Genetics Lab and Canine Health Foundation (CHF) with the goal of identifying the gene(s) responsible for PCAG in Bouviers. Our research proposal is the review process by the CHF’s stringent scientific review board. BHF has reached out to owners of bouviers diagnosed with PCAG. We have received enough blood samples to begin the research. However, we are still interested in locating Bouviers 10 years or older who have been diagnosed with PCAG.
SAS is a congenital heart defect. Symptoms include heart murmur, exercise intolerance, fainting, difficulty breathing and coughing. It can be fatal leading to sudden death especially in young dogs. BHF has worked with Dr Stern’s lab in the Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA and more recently Stern Genetics Laboratory NC State University, Raleigh, NC since 2015 to identify a genetic marker. Preliminary research suggests that a variant in the stabilize(STABI)p. Arg209Pro putative genetic variant may be implicated in causing SAS in Bouviers. https://www.bouvierhealthfoundation.org/research
Understanding genetics is important when making breeding decisions. The BHF plans to expand our research in multiple directions. Research projects are complex, timely and involve several phases. BHF needs your help to continue funding and find participants to further our research projects. Our website bouvierhealthfoundation.org has more information on our research and ways to donate.