Friday, January 25, 2013

MDR1 mutation...learn the facts


MDR1 gene…learn the facts

For those of you that own or breed dogs affected with the MDR1 mutation, you may want to read further.  http://www.vetmed.wsu.edu/depts-VCPL/breeds.aspx

"the discovery of the mutation of the multi-drug resistant gene (MDR1), establishment of testing procedures, and development of all reagents was made by Washington State University (WSU).  It is also a patent protected diagnostic test offered exclusively by Washington State University that has not been licensed to any other entity in the United States." taken from http://www.vetmed.wsu.edu/depts-vcpl/

I was aware of the MDR1 mutation when it first came out several years ago but border collies were not even listed as being one of the breeds commonly affected.  This gave me no reason to test my border collies for this gene back then.

Some time ago, Kimmy Acres informed me that Hob Nob Patron was tested for the MDR1 mutation and in her words was "positive/positive".  With this information, I had no reason to doubt her as she was very adamant with her knowledge as she also worked at a vet's office.   As this unfolded, it became increasingly difficult to communicate effectively with Patron's owner.

Patron's parents are Hob Nob Perfect Ending aka Sequel and Hob Nob Jump Start aka Juice.  Patron  was from a frozen semen litter.

I was very surprised to learn that a Hob Nob border collie was tested 'positive' for having the MDR1 mutation and proceeded to learn more about it in this present time.   In early December, I posted to my fb wall asking where the MDR1 mutation could be tested and the unanimous response was WSU as being the ONLY facility that could test for this gene.   This response lead me to do my own google search to which confirmed that WSU is, in fact, the only facility that exclusively tests for the MDR1 mutation

For the first batch I sent an order in to test 10 of my border collies to which all came back NORMAL/NORMAL.  I informed many Hob Nob owners that they may also want to test their dogs especially those siblings of Patron.  One by one, all the tests came back with the same NORMAL/NORMAL results.

At first, I was reluctant to test Sequel and Juice due to the fact that their son Patron was tested as carrying the MDR1 mutation which would therefore conclude that Sequel and Juice would have to be MUTANT/MUTANT or MUTANT/NORMAL as each parent gives one gene to the offspring.   I was also unsure if Juice's frozen semen could even be tested.  
I then called VCPL to which Neal Burke, Veterinary Clinical Pharmacology Laboratory Manager assured me that they could test Juice's frozen semen for the MDR1 mutation.   For the 2nd batch of testing, this response then gave me the confidence to test Sequel along with several more Hob Nob dogs.   Juice's testing was to follow once ICSB was notified and sent a Frozen Semen Release form.

To my delight, all the dogs in the 2nd batch for testing, INCLUDING Sequel, came back as being NORMAL/NORMAL!!!!!!!

This then posed a dilemma for me because the results of Sequel (Normal/Normal) meant that it was impossible for Patron to be positive for the MDR1 mutation.  I put a call into VCPL and asked if there were such things as false readings to which I was assured that it was not possible and the tests results were 100% accurate.  I was also told that there is less then 1/2 of 1% of border collies that carry the MDR1 mutation!

How then was it possible for Patron to be positive as carrying the MDR1 gene?

I then emailed Kimmy Acres and asked her to send me the actual test results for Patron.  To my utter shock, in seeing the test pages that she sent me I could easily see that he was not tested for the MDR1 mutation at VCPL!!!!!  Instead, he was tested through the Wisdom Panel Professional Mixed-Breed Genetic Analysis   http://www.wisdompanelpro.com

With this information, this company was contacted asking if they specifically tested for the MDR1 gene and this was their response:

Thank you for your interest in Mars Veterinary's Wisdom Panel® tests. Our Professional version of the Wisdom Panel test includes a health pre-screen that checks for a patient’s breed-related risk of developing over 30 different genetic conditions. This can help you take early preventative care measures and watch for the warning signs. Those conditions are listed at http://www.wisdompanelpro.com/healthprescreening/. Multi-drug sensitivity (caused by a mutation in the MDR1 gene) is included in this list. Please note that we do not test if your dog has the mutation specifically. For more information on multi-drug sensitivity and testing for the MDR1 mutation please visit http://www.vetmed.wsu.edu/depts-vcpl/.

If you have any additional questions, please do not hesitate to contact us at customercare@marsveterinary.com or 888-K9 PET TEST (1-888-597-3883).
Regards,
Mars Veterinary
Customer Care Department
Once I had Sequel's results back, I informed Patron's owner to let her know that it was highly unlikely that Patron was positive for carrying the MDR1 gene and that he should be tested correctly to which she refused.  Thankfully, I was able to test Juice's frozen semen to which his results came back today as being NORMAL/NORMAL!!!!!

The best thing to come from all of this is that with Sequel and Juice being tested for the MDR1 mutation and results as being NORMAL/NORMAL, this insures that their son Patron is also NORMAL/NORMAL!!!!

While the mental anguish, breeder bashing and personal expenses of over $1,000 in MDR1 testing was not something I wanted to go through, my purpose for writing this is for those of you with breeds that can be affected with the MDR1 gene to have the correct information as to the only facility that has the patent to test for the MDR1 mutation is WSU and no one else!

Sincerely, Jan DeMello proud breeder of Hob Nob Border Collies for over 25 years and counting!