Boxer cardiomyopathy is one of numerous genetically based heart diseases that affect companion animals. More correctly, this disease is Arrhythmogenic Right Ventricular Cardiomyopathy, which usually leads to poor heart function and ventricular tachyarrhythmias (rapidly occurring abnormal heart beats) that can lead to sudden death.
Our College of Veterinary Medicine is fortunate to have on its faculty Dr. Kate Meurs, who leads the Veterinary Cardiac Genetics Laboratory (VCGL). The focus of this laboratory is on uncovering the genetic basis for heart disease in cats and dogs. Recently, Dr. Meurs and her colleagues determined the gene mutation responsible for Boxer cardiomyopathy. Her strategy was insightful -- she hypothesized that the causative gene would be similar to the ones associated with a parallel disease in humans. In humans, this disease is thought to be due to mutations in proteins associated with a cellular structure known as desmosomes, which are important for holding cells together in tissues and, in tissues like the heart, electrical conduction.
Dr. Meurs' studies led her to discover that the mutation that causes this disease in Boxers is in a protein known as striatin. Not much is known about this protein, which means that Dr. Meurs not only is in a position to help Boxers and their owners by testing for this disease, but she also is now in a position to pursue basic studies of this protein and its role in cardiac function and disease.
This was elegant clinical (or to use the more modern term, translational) science, and it is a great example of what can happen when a dedicated veterinary clinician also becomes a dedicated veterinary biomedical scientist. But as cool as the science was, at the end of the day, this is all about helping prevent a fatal disease in Boxers.