Grant Amount: $103,317

Dr. Paula S. Henthorn, PhD, University of Pennsylvania

December 4, 2000 - December 3, 2002

Sponsor(s): Cardigan Welsh Corgi Club of America, Mastiff Club of America

Breed(s): Mastiff

Disease(s): Cystinuria

Abstract

Cystinuria is an inherited disease that affects the transport of amino acids, the protein building blocks, across the membranes of cells. In the disease cystinuria, the effects of improper transport particularly affect the kidney and urinary tract where the amino acid cystine precipitates to form bladder and kidney stones that can cause life-threatening complications. Cystinuria has been well-documented in dogs and humans, where it is inherited in a recessive fashion. Consequently, the defective gene can be passed to offspring by asymptomatic carriers of the disease. Two different genes are known to cause cystinuria in humans. Our previous studies determined that a specific mutation in one of these genes is responsible for cystinuria in Newfoundland dogs and allowed us to develop an accurate DNA test to identify the asymptomatic carriers of the disease so that informed breeding decisions can be made. We propose to continue our studies in other breeds of dogs known to be affected with cystinuria (primarily Mastiffs and English Bulldogs). In these studies, we will characterize the clinical, biochemical, and genetic aspects of the disease, including the examination of both genes that cause the disease in humans, with the goal of developing additional tests that will allow the elimination of cystinuria from a particular breed.