CAG investigates, among other things, mutations in horses, dogs and cats that are associated with hereditary diseases. Development of respective genetic tests is also included in our research. Examples for previous conducted research are LGMD and NM, which are explained in detail below.
Limb-girdle Muscular Dystrophy in Boston Terriers
We are currently collaborating with Dr. Leigh Anne Clark at the Clemson Canine Genetics Laboratory and Dr. G. Diane Shelton from the UCSD Comparative Neuromuscular Laboratory on projects involving canine neuromuscular diseases in American bulldogs and in Boston terriers. In 2017, this cooperation lead to the discovery of an independend mutation causing a “Muscular Dystrophy” in Boston Terriers. Symptoms of this disease, termed “Limb-girdle Muscular Dystrophy (LGMD)” include Muscle wasting, a stiff gait, enlarged tongue and linked to latter, increased salivary production, problems swallowing and vomiting. First symptoms occure between 2-4 months of age. This disease usually leads to euthanasia before puppies reach the age of 12 months. Read the interesting blog on the Website BioMed Central or visit our genetic testing page for LGMD.
Nemaline Myopathy in American Bulldogs
Together with colleagues at the Clemson University, the University of California San Diego and other academic partners in North America, CAG discovered a mutation causative for the muscular disease “Nemaline Myopathy (NM)”. Affected puppies may show symptoms at the age of 8 weeks. Symptoms include Muscular wasting, weakness, tremors and exercise intolerance. Because of poor life quality of affected puppies, they are usually euthanised before reaching an age of 12 month.