WHAT ON EARTH IS PDP1 / PDH?

2007-12-01

: Jan Irving 

This is just a brief introduction, I hope to get back to add more information later.

 PDP1 (Pyruvate Dehydrogenase Phosphatase 1) deficiency in Clumbers has been demonstrated (Nov 2005) to be a simple autosomal recessive genetic defect. Originally PDP1def was referred to as Pyruvate Dehydrogenase PDH Deficiency. The aim at Erinveine is to eradicate the defective gene from our population over the next 1 to 3 generations. While carriers do not exhibit the disease, carrier to carrier should not be mated together as 25% of the resulting pups can be expected to have the associated debilitating exercise intolerance. Pups from parents who are both clear can be considered clear themselves. Pups from a parent that is a carrier must be tested to establish their status before breeding from them.

 The reserach paper is
Title: Identification of a Canine Model of Pyruvate Dehydrogenase Phosphatase 1 Deficiency
Authors: Jessie M Cameron, PhD; Mary C Maj, PhD; Valeriy Levandovskiy; Neviana MacKay, MSc; G Diane Shelton, DVM, PhD; Brian H Robinson, PhD
scheduled for publication in "Molecular Genetics and Metabolism" in about December 2006.

ERINVEINE WAS INVOLVED AT EVERY STEP OF THE DEVELOPMENT OF LAB TESTS, AROUND THE WORLD.

 We are so proud to have been able to help the initial researchers by supplying some 20 blood samples (special thanks to local vet Dr Peter van Orsouw who did me a deal on the collection cost, came to the kennels, and even sourced no cost collection tubes).

We were also able to supply cheek swabs to Genetic Technologies Ltd so a cheek swab test could be established in Australia.

And, we were also able to do the same for the UK's Animal Heatlh Trust.

Erinveine committed to getting this test available worldwide, now it is up to all breeders to eradicate it!

THE ORIGINAL PRESS RELEASE FROM THE RESEARCH SCIENTISTS

 GENETIC TEST NOW AVAILABLE FOR PYRUVATE DEHYDROGENASE DEFICIENCY IN CLUMBER SPANIELS - Press Release

We have identified a novel cause of pyruvate dehydrogenase (PDH) deficiency in Clumber spaniels, and are seeking similarly affected dogs to increase our study group. Whilst PDH deficiency is rare in Clumber spaniels and usually presents as exercise intolerance, in humans it is a debilitating disease with severe neurological symptoms. PDH deficiency in Clumber spaniels appears to be less severe than its human counterpart, with neurological signs not yet identified. However, the affected dogs do have dramatic exercise intolerance and may have a shortened life span resulting from heart and lung complications.

PDH is an enzyme that is present in every cell in the body. PDH is located in the mitochondria, the powerplant of the cell. It is within the mitochondria that the body converts food into energy, which is vital not only for muscle function, but for survival.

Recent research into PDH deficiency in Clumber spaniels has led to identification of the first gene responsible for this disease in dogs, and because of this we are now able to offer genetic testing to diagnose affected dogs, as well as providing genetic carrier status diagnosis. This disease affects both males and females, and is not X-linked. So far, genetic carriers appear to be physically normal, and the only way to identify carriers is by genetic testing. Sussex spaniels, closely related to Clumber spaniels, are also affected with PDH deficiency, although the mutation has not yet been confirmed in this breed.

We would like to test additional Clumber and Sussex spaniel dogs to determine the incidence of disease and also the frequency of carriers in the general population. In exchange for a small blood sample from your normal appearing, exercise-intolerant, or already diagnosed PDH-deficient dog, we will provide a full genetic analysis of the candidate gene. We are happy to test large pedigree families if an exercise-intolerant dog has been identified in the litters. Individual results are strictly confidential with results sent by email to the owner. If an owner or breeder wishes to have results of dogs free of the mutation listed, the Comparative Neuromuscular Laboratory website (http://medicine.ucsd.edu/vet_neuromuscularhttp://medicine.ucsd.edu/vet_neuromuscular) will offer a list of cleared dogs. This list will be continuously updated. At this time, the cost of testing will be waived for owners and breeders; but following publication of the scientific paper, there will be a charge for future testing.

Please contact Dr Jessie Cameron at The Hospital for Sick Children, Toronto (jessie_cameron@hotmail.commailto:jessie_cameron@hotmail.com) or Dr Diane Shelton at the Department of Pathology, University of California, San Diego (gshelton@ucsd.edu) for information pertaining to sending blood samples. We will provide full shipping details. If other samples are available (semen, tissues, cultured cells), they can also be used to test the candidate gene. Clinical questions regarding PDH deficiency in Clumber and Sussex spaniels should be directed to Dr. Shelton. --------------------------------end----------

TESTING LABS

  there are a handful of labs across the world equipped to do this test, this list is not complete


Australia test lab:
http://www.animalnetwork.com.au/tests/index.php?testid=27
Australia (as of July 2010) do not publish a list of tested/clear etc dogs

UK test lab
http://www.aht.org.uk/genetics_pdp1.html
UK (as of Oct 2007) do publish a list of tested/clear etc dogs -http://www.thekennelclub.org.uk/item/1487

you will need to research in other countries, some countries still (as of July 2010) still do not recognize this genetic disease in Clumbers - beats me how come they can ignore such well documented science!

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