Among dog breeds, Nova Scotia Duck Tolling Retrievers (tollers) have an unusually high rate of Addison's disease, a condition in which the adrenal glands do not produce enough hormones, notably cortisol and aldosterone. In humans, Addison's disease is thought to occur when the body's immune system attacks the adrenal glands, making it a type of autoimmune disease. 

Affected tollers typically develop Addison's disease at a young age and the condition appears to be inherited. It often occurs with other autoimmune diseases, a condition called multiple autoimmune syndrome. Dogs with juvenile-onset Addison’s disease typically die within two years, even with treatment. 

Now scientists have identified a gene variant in tollers, RESF1, which is strongly associated with the disease in dogs. The team was led by Professor Danika Bannasch, Maxine Adler Endowed Chair of Genetics at the UC Davis Weill School of Veterinary Medicine, with graduate students Emily Brown andScarlett Varney, and colleagues at UC Davis and internationally.  

Similar gene in dogs and humans

The RESF1 gene is very similar across other species, including humans, but has not previously been associated with Addison's disease or multiple autoimmune syndrome in people. The new study suggests that researchers could investigate it as a candidate gene for human Addison’s disease. Tollers could be a natural model for multiple autoimmune syndrome, potentially offering insights relevant to both veterinary and human medicine.

A genetic test is available through the UC Davis Veterinary Genetics Laboratory to help breeders avoid producing affected dogs in the future.

Additional authors on the paper, published March 12 in Scientific Reports, are: at UC Davis, Amy Young, Zena Wolf, Angela Hughes and Anita Oberbauer; Oded Foreman, Genentech, South San Francisco; Claire Wade, University of Sydney, Australia; Noa Safra, Zoetis, Parsippany, N.J.; Kerstin Lindblad-Toh, Uppsala University, Sweden; and Shelley Burton, University of Prince Edward Island, Canada. 

The work was supported in part by the Nova Scotia Duck Tolling Retriever Club of America, the Canine Health Foundation, the UC Davis Center for Companion Animal Health, the Morris Animal Foundation and the National Institutes of Health.