Part I.† Molecular characterization of Juvenile Renal Dysplasia in cats.
This post is from DOGenes Inc.† My name is Mary Whiteley, and I am a molecular biologist with a PhD in developmental biology.† I have worked with a wide range of model organisms and have studied genes involved in embryogenesis in salamanders, fruit flies and dogs.† About 10 years ago I decided to use my training to study health problems in dogs, and turned my focus to Juvenile Renal Dysplasia (JRD).
What is Juvenile Renal Dysplasia ?
By definition, JRD is the result of abnormal development of the kidney.
In dogs, JRD represents an important category of kidney disease, but is confusing in that it seems to lack a specific phenotype, and includes a variety of pathologies.† Further it is not well understood because it is inherited as dominant with incomplete penetrance. This means that a normal individual that carries one or two copies of the JRD mutation can pass it on to its offspring.† Not all puppies in a litter may get the disease even though they may carry the mutation.† Because of varied penetrance of the mutation only a small percentage of individuals will develop JRD.† Therefore, with isolated cases within a family,† JRD is often not thought of as hereditary, and may be misdiagnosed as congenital (a birth defect).† As a result of conflicting information in the literature, I believe that JRD, an inherited disease in dogs is probably underreported and under diagnosed.† This may be the case in cats as well.
In 2007, I discovered the mutation for JRD in dogs, and have found this mutation to be widespread in many breeds.
With the success of this research in dogs I would like to apply my knowledge to cats.
The scientific literature of kidney disease in cats is rather thin.† If there is an analogous inherited form of JRD in cats and dogs, it is unclear. However, I have defined below the samples that I am looking for that may be helpful in answering this question.† These are based on the many cases of JRD that I have looked at in dogs.† The inclusion criteria are broad because the clinical features of JRD in dogs are not well defined, and may encompass some of the disease processes listed below.
Any cat less than 3 years old of any breed that has been diagnosed with:
DNA samples from clinical animals in the above categories will be used for DNA sequencing of the feline equivalent gene to the gene that causes JRD in dogs to see if there are any possible disease-causing mutations.
Part II.† Molecular characterization of calcium oxalate stone formation in cats.
I have continued to expand my studies of renal diseases to include the molecular basis of calcium oxalate stone formation.
It is believed that there is a hereditary predisposition to calcium oxalate stone formation.† In cats, certain breeds including, but not limited to Himalayan/Colourpoint Persian, Persian, British Shorthair, Exotic Shorthair, Burmese, Foreign Shorthair, Havana Brown, Ragdoll and Scottish Fold seem to be at a greater risk to developing calcium oxalate stones.† There is a supposed breed disposition for calcium oxalate stones as well in dogs.† Studies of both dogs and cats will be done in parallel.
For this study I am seeking DNA from any age cat, and any breed that has developed calcium oxalate bladder stones.
What is required to participate?
You will be asked to submit cheek swabs as DNA samples.
You will also be asked to provide any relevant medical information that you have on your cat, as well as any pedigree information that you may have.
You will be asked to sign a release for transferring the ownership of your catís DNA to DOGenes Inc.
There is no cost for participation.
Anyone wishing to participate in these studies should contact me directly at firstname.lastname@example.org, or you can sign up for participation online at: