Deadly Labrador Gene Mutation Identified

A gene mutation carried by up to 30% of Labrador Retrievers has been identified by researchers as being linked to Exercise-Induced Collapse (EIC).

Researchers at the University of Minnesota College of Veterinary Medicine identified a gene associated with the syndrome which can result in loss of control of hind limbs and sometimes death after intense hunting or retrieving exercise – activities these dogs are trained to perform. Up to 3-5% of Labradors are affected by this condition. Researchers also determined that up to 30 percent of Labrador retrievers are carriers of the mutation, and they developed a genetic test to indicate whether dogs have the normal or mutated forms of the gene.

The research team identified a mutant form of the dynamin 1 gene as highly associated with EIC. The dynamin 1 protein normally functions to maintain proper chemical communication between adjacent nerves, also known as synaptic transmission. However, the mutated form of the dynamin protein appears to have diminished function, interrupting synaptic transmission during intense exercise, and causing the muscle-controlling nerves to not fire when directed to do so. The research was published in the journal Nature Genetics and was funded by Morris Animal Foundation and the American Kennel Club Canine Health Foundation.

Owners can have their dogs tested through their veterinarian by submitting a blood sample to the University of Minnesota Veterinary Diagnostic Laboratory.

"The test can not only help confirm the diagnosis, but it can also help dog breeders ensure that no dogs inherit two copies of the mutated gene," said Edward Patterson, D.V.M, Ph.D., assistant professor of veterinary medicine at the University of Minnesota and co-principal investigator of the study.

Breeds such as Chesapeake Bay and curly-coated retrievers, which are closely related to Labradors, have also been found to have the dynamin 1 mutation. The research team is now determining what other breeds might be involved and more precisely defining the specific alteration in dynamin function.

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