Research Update January 2010

An exciting update about cystinuria research at the University of Pennsylvania from the Mastiff Club of America's Cystinuria Committee.

Below is a copy of the Lay Summary for the most recent Cystinuria Grant # 919 that ended on 12-31-09. As you can see, we've made significant progress in the past 6 months! It's been a group effort and we appreciated the Mastiff Community and other breeds for participating in the research!

Dr. Henthorn will be submitting an Acorn Grant this month to the AKC Canine Health Foundation to continue her Canine Cystinuria Research. We are hoping this will lead to a DNA test for Cystinuria in Mastiffs and other breeds and help us identify which dogs are at a higher risk of developing stones. We are also hoping the research will help us better understand the disease and help us decrease stone formation in those dogs.

CHF Grant 919 - "Molecular Genetic Characterization of Canine Cystinuria for the Development of Carrier Tests"

Lay Summary (Non-confidential)

Cystinuria is an inherited disorder that causes kidney and urinary tract stones in dog, man and other animals and has been documented in over 60 breeds of dogs. In humans, mutations in the protein coding regions of two genes (named SLC3A1 and SLC7A9) are found in affected individuals. In humans, cystinuria is primarily inherited as an autosomal recessive trait, with some instances of somewhat more complex inheritance patterns. In many dog breeds, cystinuria appears much more complex.

While our data rules out simple autosomal recessive inheritance of mutations changing the proteins produced by SLC3A1 or SLC7A9, our most recent data suggests that in at least one breed of dogs (Mastiffs), DNA changes near one of these genes are associated with cystine stone formation. There is also evidence that gender and reproductive status may affect the level of cystine in the urine. Taken together and if confirmed in a more comprehensive study, this most recent data suggests approaches that can be used to reduce the incidence of cystine stone formation in the Mastiff breed. Additional studies can be pursued to determine if the conclusions reached in Mastiffs can be extended to other breeds, and may help identify the underlying biological processes leading to cystine stone formation in several dog breeds.

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