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CYSTINURIA RESEARCH

CYSTINURIA RESEARCH & HOW YOU CAN HELP

 

 

 

 

Cystinuria Urine Submission Form

 

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We have made some significant progress with our Cystinuria Research this past year with the DNA submissions from families of affected dogs.  It is extremely important that owners and breeders of Cystinuria positive dogs submit blood samples for DNA analysis, along with additional urine samples and pedigrees to Dr. Paula Henthorn at the University Of Pennsylvania to be used in the Cystinuria Research. 

The researchers need blood samples to find the gene mutation(s) that cause Cystinuria in Mastiffs!

UPenn also needs more blood samples from actual cystine stone formers. Based on the SNP Chip gene mapping studies, they are running additional gene mapping DNA analysis on Cystinuria positive dogs that have also had Quantitative Amino Acid screenings and on dogs that have actually formed stones. If you have submitted blood from a dog that tested NEGATIVE OR POSITIVE on the Nitroprusside Urine Screening and that dog went on to form cystine calculi or stones, PLEASE NOTIFY Dr. Henthorn at UPenn on the change in status as it will benefit the research study to know this information when analyzing the dog’s DNA.  Even if your dog has never participated in the study  before, please notify Dr. Henthorn if your dog has formed cystine stones or your veterinarian has observed cystine (hexagonal crystals) in the urine. The researchers need to compare the phenotype or clinical symptoms of the disease in individual dogs to the gene mapping study data.

Current Cystinuria Research Projects

  • Grant 919:  Kidney Disease – Cystinuria:  Molecular Genetic Characterization of Canine Cystinuria for the Development of Carrier Tests

  • Principal Investigator: Dr. Paula S. Henthorn, PhD at the University of Pennsylvania

  • Sponsors: Mastiff Club of America, Karen and Jeffrey Flocker of New Beginning Mastiffs, and the Basset Hound Club of America

Abstract: 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 two genes (named SLC3A1 and SLC7A9) are found in affected individuals. While human Cystinuria was originally observed to be inherited as an autosomal recessive trait, more complex inheritance patterns, and their molecular origins, are currently being elucidated.  Based on our previous work, which developed tests to detect Cystinuria-causing mutations for Newfoundlands and Labrador Retrievers, breeds that have autosomal recessive forms of the disease, and for Australian Cattle Dogs, which have a more complex etiology for Cystinuria.  We will focus our efforts for the next funding period on experiments that test a hypothesis developed from our current work. In particular, we will concentrate on three breeds in which Cystinuria is more common, in order to understand the genetic basis of the most common form of Cystinuria in dogs, with the goal of developing carrier tests to be used for the elimination of Cystinuria in multiple breeds.

Click on this link for the latest Cystinuria research report update: 

AKC CHF Grant 919 Canine Cystinuria Progress Report

Cystinuria Research Participation

 

If you have a dog that has tested positive on the nitroprusside urine screening test or that has ever formed cystine crystals or stones, or that is related to a dog that has Cystinuria, (parent, grandparent, offspring, or sibling), please participate in the Cystinuria Research Study by filling out the DNA Submission Consent Form (Updated Oct 22,2010) and send it along with blood and additional urine samples and a copy of the dog’s pedigree if it is available. Dr. Henthorn is also interested in receiving blood and additional urine samples from dogs that have tested positive by the urine nitroprusside test in the past, but have been neutered since the urine tested positive.  If your dog has formed cystine crystals or stones it is very important that you also attach a copy of the Stone Analysis Report or send a sample of an actual cystine stone to Dr. Henthorn if it is available.

 

 

Dr. Paula Henthorn (Mastiff - Cystinuria Research)

Section of Medical Genetics
University of Pennsylvania School of Veterinary Medicine
3900 Delancey Street, Room 4030
Philadelphia, PA 19104-6010
Phone number required for FedEx: (215) 898-8894

 

Please Send Dr. Henthorn Updated Medical Information On Your Mastiffs
If you have a Mastiff that is part of the Cystinuria Research at the University of Pennsylvania and your dog was Cystinuria negative when it entered the research program and it has since formed cystine stones, please notify Dr. Henthorn as soon as possible and give her a full update on your dog.  The same is needed from dogs that have previously tested positive on the nitroprusside urine spot test that have gone on to form stones.  Dr. Henthorn needs to know which dogs in the research study have actually formed stones and which dogs have not formed stones to study the differences in the clinical symptoms and expression of the disease (phenotype) verses the genetics of the affected dogs (genotype).
 
Cystinuria Diet Study
Dr. Giger, at the University Of Pennsylvania's School Of Veterinary Medicine (PENN VET) is studying the effects of regularly used diets and supplements on amino acid concentrations (particularly cystine) in the urine.  Please contact Dr. Giger at (215) 898-3375 if you would like to include your Mastiff in this important diet study.
 
Kidney and Urinary Tract Pathology Research

Please consider donating your Cystinuria Positive Mastiff’s kidneys and urinary tract to the University of Pennsylvania after his death.  UPenn would like to study the urinary tracts of affected Mastiffs that have formed cystine stones and from Mastiffs that were positive on the nitroprusside urine screening test, but never went on to form stones.  For more information and instructions on donating your dog’s kidneys and urinary tract to research after his death, please contact Dr. Paula Henthorn at the University of Pennsylvania’s School of Veterinary Medicine.  She can give you directions to share with your Veterinarian so that your Mastiff can be a tissue/organ donor after his death.

Cystinuria Research Funding

The Mastiff Club of America has been financially supporting Canine Cystinuria Research through various grants sponsored by the AKC Canine Health Foundation using funds in the AKC CHF’s Mastiff Donor Advised Fund.  In 2004 the Mastiff Club of America formed The Mastiff Club of America’s Charitable Trust which is an IRS approved 501(3)c charitable organization which allows the contributors to make tax deductible donations as allowed by law.  These donations can then be used to support health research projects for Cystinuria and other disorders that can affect Mastiffs and they also allow us to offer educational health seminars and discounted health clinics. 

We encourage everyone to make donations to the MCOA Charitable Trust’s general account, but we have also set up a designated Cystinuria Account for those that would like to make donations that are specific to Cystinuria until such time as a DNA Test for Cystinuria becomes available for Mastiffs. At that time any remaining funds in the Cystinuria Account will be used to help fund other health projects as needed.  

If you would like to send a tax deductible donation specifically designated for Cystinuria Programs, please write the checks payable to: The MCOA Charitable Trust and write “Cystinuria Account” in the notes section and mail the donation to:

MCOA Charitable Health Trust

c/o Anne Heyob
1345 Murphy Hill Road, Lot 182
Langston, AL 35755

You can also make an online donation to the Mastiff Club of America’s Charitable Trust Cystinuria Account through our Facebook Cause by clicking on this LINK.  If you have a facebook account you can click on the “Connect with Facebook” button and make your donation.  If you do not have a facebook account you can click on the “Donate without Facebook” button.

If you would like to add the MCOA Charitable Trust Cystinuria Account Cause to your facebook account and ask your friends to join and make donations you can join by clicking this LINK

You can also make online donations to the Mastiff Club of America Charitable Trust’s General Fund through Network for Good by clicking on this LINK

 

        

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