Results of the 2007-2008 CHF Acorn grant.

We identified an abnormal organic acid in the urine of three pups afflicted with DUNGd. This provided a clue to the metabolic pathway which might be affected in DUNGd and pointed toward 4 genes that could be the cultprit. We examined the DNA from affected pups for all four genes and found a mutation that was likely to affect the enzyme function in one of the genes.

When we examined the mutation in the famlilies involved, however, the picture was complicated. Some dogs that carried the mutant gene showed the abnormal organic acid in their urine, but did not have DUNGd.

Further research will be necessary to determine the significance of these findings. We know that in children, mutations in the gene identified produce a wide range of symptoms. Some children with the mutations die as infants, while others live normal lives. Whether a similar variability occurs in Gordon Setters is not clear.

What next ?

The next step will be to collect additional DNA and urine samples from families of dogs with DUNGd and from families who do not carry the mutation. These samples will allow us to determine if there is indeed a relationship between the mutation we have identified and DUNGd. If we find the mutation is not the cause, then the additional samples collected will move us closer to being able to perform gene mapping to identify the gene that is responsible for the disease. This approach allowed us to find the gene resonsible for a similar disease in Standard Poodles - Neonatal Encephalopathy..

How can I help?

If you have a litter with a Gordon Setter pup you believe might be affected with DUNGd, please contact us.
We can help your veterinarian in determining whether or not this is the problem in your pup.  In return, we would ask your help in collecting the samples and information necessary to continue searching for the gene responsible for this disease. 

Any information provided to us will be kept strictly confidential.

Thank you!