631: The Genome Wide Search for the Genetic Cause of Primary Hyperparathyroidism in the Keeshond

Grant Status: Closed

Grant Amount: $91,917
Dr. Richard E. Goldstein, DVM, Cornell University
April 1, 2006 - September 30, 2008
Breed(s): Keeshond
Research Program Area: Prevention

Project Summary

The study of the genetic cause of cause of primary hyperparathyroidism in Keeshonden has gone very well with the majority of our goals fully accomplished. The primary initial goals of the study as to the mapping of the trait and developing a test genetic test for PHPT in Keeshonden have been successfully achieved. We feel that this test has already made a large contribution to the health of the breed and will continue to do so. During the last months we have concentrated on our final goal, an effort to prove the mechanism through which the mutation that we identified causes the disease in affected Keeshonden. This is not an easy task as the mutation is an insert in the promoter region of the gene that is associated with the disease, and does not disrupt the production of a normal protein as most disease causing mutations do. Therefore defining the way the disease is caused is requiring quantitative analysis of protein production with and without the mutant insert in-vitro in cell culture as well as in live mice that have been genetically altered in the gene that is associated with PHPT in Keeshonden. During the period of this grant we have also continued to educate Keeshond owners and breeders about the disease and the genetic testing we are offering. This effort was culminated in 2 hour presentation at the 2007 Keeshond Club of America national meeting. At that presentation I updated the Keeshond community as to the current state of our study and the genetic testing for PHPT in Keeshonden. The current numbers of tests were presented along with the percent of positive dogs. This led to meaningful discussions as to the future of the breed and the plan to eliminate this disease from the breed without endangering the future of the breed by excessive narrowing of the available gene pool.

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