We approach our molecular studies in many ways. One approach that we use is to look at genes that cause the disease in human beings as possible "candidates" for the animal disease. This approach has worked well for the study of feline cardiomyopathy since two mutations that cause feline hypertrophic cardiomyopathy were identified in a gene that commonly causes the human form of this same disease. However, this approach has not worked well for Boxer Arrhythmogenic Right Ventricular Cardomyopathy. We have now evaluated all of the common genes that cause this disease in humans and have not found a causative defect.
A second approach is to use a "SNP ARRAY" -a small chip that contains pieces of DNA all thoughout the canine genome. A computer uses the chip to looks at 30,000 or more different peices of DNA and looks for a change in the DNA observed most commonly in the affected but not in the unaffected dogs. When this is identified, it may mean that there is a causative genetic mutation near by. Together with Dr Kerstin Lindblah-Toh at the Broad Institute we have searched the boxer genome for risk factors for cardiomyopathy. We have found two candidate loci, which we are further examining to find the mutations. We believe that we are making significant progress and I hope to give an update on this project at the National Boxer Show in Ohio in May!
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