View Full Version : DCM Testing
Panama
09-29-2010, 11:39 AM
Reposting with permission....
Hello everyone,
GREAT news!!
Dr. Kate Meurs of Washington State University College of Veterinary Medicine has identified a genetic mutation responsible for causing cardiomyopathy in Dobermans. A reasonably priced test will be commercially available in about two weeks through the Veterinary Cardiac Genetics Laboratory at WSU.
DCM is a heart failure condition that kills 58.2% of all Dobermanns. This means, breeders are now able to perform this test PRIOR to breeding to determine of the parents are carrying a DCM gene and to ensure the puppies will not carry on this gene or develope DCM.
This also means that we can add this to our campaign, so we owners can demand a DCM test as well.
This is one of the greatest discoveries for the breed and it's going to save many lives.
Dr. Meurs is coming to the National to present her findings and answer questions. She is scheduled to speak on Monday, October 4th, 2010 at 10:00 a.m. in the Emerald Room. There will be room for Q & A as well until 12 noon.
If you're in Washington then please try to be there and show your support and gratitude to Dr. Meurs remarkable achievement!
Please spread the word so that everyone who wants to be there is made aware of this development.
Dr. Meurs deserves many accolades for this long awaited accomplishment for our breed!
That is incredible news. Do you have a link on this so that we can read more. I hope to be there.
Panama
09-30-2010, 01:29 PM
The info I posted was sent to me on FB from "Save The Doberman Breed", but
I just found this. I haven't had a chance to read it but going back now to read it.
http://www.vetmed.wsu.edu/deptsVCGL/Doberman/index.aspx
Shadowlands
09-30-2010, 02:52 PM
I had heard they are hoping to do a live feed at the Nationals, but that is just speculation at this point. But this is great news and am going to check out that link.
Thanks Panama for posting it on here!
It is good news and that site says $60 for the test which is very reasonable. While identifying the gene is great news, it does form more questions in my mind:
Is it autosomal dominance?
How many dogs are affected? And what will the owners do when they find out the information?
Will the test tell you they will develop it at 3 or 12? (Lots of difference of a dog dying at 12 and one at 3 for me.)
And what will other people do with dogs that do have it? Or can pass it on?
How many Euro? How many American?
And who?
I can't wait to find out more. Thanks for the link.
Panama
09-30-2010, 07:06 PM
It is my understanding there are only two possible results.. either negative or positive.
as posted elsewhere.....
"If you look at Dr. Meur’s previous determination that the mode of inheritance most likely being a dominate gene this DNA test will likely determine if the individual Doberman being tested is positive or negative for carrying either one or two copies of the mutated DCM gene. Unlike vWD there will be no carriers involved. Just positives and negatives that the dog either has or don’t have the mutated DCM gene(s). If the Doberman is positive, or carries the mutated DCM gene it apparently does not mean that they will develop the disease due to variable penetrance. This means that some individuals with the genetic mutation will not show the disease until they get older and that some individuals with the mutation will NEVER show the disease. However DCM positive individuals can pass the mutated gene to either some or all of their progeny depending on whether they have 1 or 2 copies of the mutated gene. I am wondering if the test will be able to tell us if the dog has one or 2 copies or just positive?"
Big Dogs
10-01-2010, 05:21 AM
Excuse me for my ignorance but let me see if I'm reading this correctly it will tell you if the dog has a gene that has been linked to DCM but it doesn't mean it will manifest it's self at all or it may not show up until the dogs senior years? Having lost a dog to this I'm very interested in DCM but this sounds like it is going to give me as much information as giving a puppy or dog a holter test which results are debatable especially at an early age.
From what I read briefly, she believed at one time that DMC was transferred by autosomal dominance. Now I maybe wrong, but I think this is what this means....a dog could have one clear gene and one that carried cardio....if he was bred to a bitch that had two clear genes, half of the puppies would carry the gene for cardio..half would not. Be interesting to know how they will recommend and work this new information. It would be my guess that most would carry it and not thinking that it would be something you could bred out in one generation. I have a lot of questions. Sure hope that they video this so that we can all hear what she has to say and the recommendations. I am not sure this was true but it was in her earlier study.
Some have said, well what if the Vwd affected dogs are clear....I mean there are so many possibilities. But good news and more tools to improve health for sure.
I have plans to go to the National. If I don't, I will have someone pick up the information.
Panama
10-01-2010, 09:11 AM
Excuse me for my ignorance but let me see if I'm reading this correctly it will tell you if the dog has a gene that has been linked to DCM but it doesn't mean it will manifest it's self at all or it may not show up until the dogs senior years? Having lost a dog to this I'm very interested in DCM but this sounds like it is going to give me as much information as giving a puppy or dog a holter test which results are debatable especially at an early age.
My take on it:
A negative result, the dog will not have any cardio issues
One gene, the dog will not likely have any issues
2 genes, the dog should be monitored regularly as they are the most at risk of developing issues (at any age).
Panama
10-01-2010, 09:24 AM
Some have said, well what if the Vwd affected dogs are clear....I mean there are so many possibilities. But good news and more tools to improve health for sure.
I have plans to go to the National. If I don't, I will have someone pick up the information.
The breeding stratagies are going to be interesting, especially taking into consideration all the other health issues we face. I noticed on the order form, it doesn't ask for the dog's registration #. My big questions are...
Will there be a database?
Like DobeQuest, it will only be as good as the info available/provided/allowed.
With the "Privacy Act" will ALL results be public knowledge? (probably only if the owner checks a certain box)
I think there is misinformation on this thread. I understand that they have found the gene that is related to DCM. I don't think we know the full meaning of that. I am searching for articles etc. The announcement is three days away and we will know more then.
I do know that in the past Cardio was thought to have dominance. Meaning that when even bred to a dog clear of Cardio, if there is such a thing....? Half of the pups would develop Cardio sometime in their life. So it's a start but will raise more questions than answers for awhile.
Panama
10-01-2010, 01:07 PM
The DPCA has arranged to have live streaming at the National for 2 health presentations:
Dr. Kate Meurs:
Dr. Kate Meurs of Washington State University College of Veterinary Medicine has identified a genetic mutation responsible for causing cardiomyopathy in Dobermans. Dr. Meurs is coming to the National to present her findings and answer questions. She is scheduled to speak on Monday, October 4th, 2010 at 10:00 a.m. CST in the Emerald Room. Q & A may last until 12 noon.
Dr. Amara Estrada:
Dr. Amara Estrada of Florida College of Veterinary Medicine will be speaking on DCM stem cell research after the General Meeting on Monday, October 4th, 2010 at 2:00p.m. CST. Since she is speaking after the meeting, we don’t know exactly what time she will start.
To watch the live streams, please visit our Ustream page at:
http://www.ustream.tv/user/DPCA/shows
The presentations will be streamed live and recorded so they can be watched in the future.
We suggest that in order to watch Dr. Estrada, you visit our page around 2pm CST so when the stream starts, you can view from the beginning.
Michelle Kramer
DPCA Webmaster
Permission to cross post
Panama
10-01-2010, 01:28 PM
Alot will depend on whether this test can tell us if a "positive" dog has 1 or 2 mutated genes associated with DCM.
As for passing on the gene, this is how it was explained to me (mathmatically speaking, dealing with 3 variances of results: Neg, Positive w/1 gene & Positive w/2 genes)...
if a dog tests positive with 2 genes, yes, they can pass 1 gene onto all pups produced by that particular dog (as all pups get 1 gene from each parent). So bred to a dog with negative results, only 1 gene can be passed on.
If positive with 1 gene bred to a negative, part of the litter will get the one gene and some will be negative.
A positive w/2 genes bred to a positive w/1 gene, some pups are going to 2 genes.
2 positive w/2 genes will produce all pups that have 2 mutated genes
And naturally 2 negatives bred will not pass on the gene at all.
I will be sitting in on the live stream on Monday, hoping to get more info.
Glengate
10-01-2010, 05:12 PM
My take on it:
A negative result, the dog will not have any cardio issues
I really doubt it's going to be this simple. While I realize that boxers are a different breed and their cardiac problem is different from ours, boxer people are reporting that boxers found clear by their DNA test that Dr. Meurs developed for them have later dropped dead suddenly, probably from sudden death arrhythmia.
While this new test is probably a part of the puzzle, it's not the end, IMO. I think it's very telling that the announcement is that she has found "a" genetic mutation, not "the" genetic mutation as it was worded when VetGen discovered the mutation for vWD. I think there are probably more than one genetic mutations that cause Doberman dcm.
Additionally, they are saying that the dogs found to be "affected" may not go on to develop the disease because of variable penetrance of the gene. Or maybe they're in the late onset group (we already know that 25% of Dobermans develop dcm after the age of 10) and something else gets them first.
I welcome the progress, I really do. But I believe there are more miles to travel.
I think you maybe right and we are all awaiting the information.
While it would be nice to have all the answers on DCM, I do think it maybe just one discovery in a long line of more discoveries to come. I also think that there is a big difference from a dog that dies at 9-10 than one that drops dead earlier. With more discoveries, I'm sure that those of us that love the breed will follow these developments with great interest....and have greater tools to use as this develops.
I signed up for the live stream but not sure I can watch it on Monday at 8AM. Can anyone tape it or is that allowed? Be really nice to have it as a link on DH. I wasn't sure how that works. Does anyone know?
I plan on flying to Kansas, but won't be there on Monday.
I was a little shocked on people on other forums talking about putting puppies down that have the gene. That's just ridiculous! Breeding them may not be what should be done, but geeeeeeeeze let's see what the tests show first. Culling and putting puppies down just because they carry this gene is not what I would do ever. Once they are here, they deserve a life. Couldn't believe that anyone would say that. Takes all kinds in this ole world, I guess.
It is good news and more tools.
Shadowlands
10-02-2010, 08:31 AM
On Monday we will have more answers as to how to use the results that are derrived from this test. Right now, everything is speculation. As for talk of culling, that is just plain stupid IMHO. Sounds like the early days with the Dane breeders in regards to the Harlequin Dane. If it weren't for this test, there would be no talk of killing those that have the gene. It is a chance (albeit we try to make it an educated one) that all of us have taken with each and every pup that has ever been born. Yes, it is a sad fact that some of our dogs have not lived to a grand old age of 9 (that is still too young). But do we regret having had that dog in our lives? No, we don't. This test shouldn't change the fact that this breed does have its health issues but we love them inspite of that.
I agree with RKCM, I think this is just the first step of many to a cardio free Doberman. I also think that we all need to move carefully forward, and not dive into the deep waters without looking. We don't know enough yet to start making any hasty decisions.
Panama
10-02-2010, 09:06 AM
I saw an article discussing the potential for this test to create culling... truly made me sick.
I whole heartedly agree... this is just one step in the process of trying to eliminate the "silent killer" in our breed and it will take many more steps & generations to have a better understanding of how to reduce and hopefully eliminate it.
Becky, I have to agree on the fact that there is a difference between a 4-6 yr old just dropping dead apposed to a 10 yr old. Don't get me wrong, any loss is devestating. When I lost my 13 1/2 yr old, it affected the entire family drastically (even my daughter that had been out on her own for 5 yrs before he passed).
And I have been reading it is a combination of genes, so I think it's one step in a mountain. Hope that is not the case, but I'm thinking so. Guess, we will know more Monday, but there is sure a lot of misinformation out there.
No one that loves dobermans will throw the baby out with the bath and they will test. Just unsure of what the implications will be of the test.
There is no easy answers. I sure think it would of been nice to have some article on exactly what this means. Surely, it's not that new if they already have a test.......?? They know and I hate hype when it is as important as this. Seems better to give the information so that there is less misinformation.
Here was her recommendations for the Boxer community when a gene was discovered for their breed:
Dogs that are positive for the test will not necessarily develop significant heart disease and die from the disease. Some dogs will develop a very mild form of the disease and will live quite comfortably, some may need treatment.
Removal of a significant number of dogs from the breeding population could be very bad for the Boxer dog breed. Remember that dogs that carry this mutation also carry other important good genes that we do not want to lose from the breed.
Positive Heterozygous (1 copy of the mutated gene and 1 copy of a normal gene) Dogs that are positive heterozygous should be carefully evaluated for signs of disease (Holter monitor and possibly an echocardiogram). If an arrhythmia (VPCs) is detected, possible treatment options should be discussed with your veterinarian. Adult dogs that do not show signs of disease and that have other positive attributes could be bred to mutation negative dogs. Puppies may be screened for the mutation and over a few generations, mutation negative puppies may be selected to replace the mutation positive parent and gradually decrease the number of mutation positive dogs in the population.
Positive Homozygous (2 copies of the mutated gene) I recommend not breeding the homozygous dogs UNLESS they are exceptional members of the Boxer community and we need to be sure to maintain their positive attributes in the breed. Dogs that are homozygous for the mutation appear to have more significant disease and will certainly pass on the mutation therefore they should only be bred to a negative dog and over 2 generations of negative crosses a negative puppy could be selected as a replacement.
I think the link to watch this seminar is free. Is anyone able to watch it?
Lots of information on the presentation and doing three things at once but it seems to be much like the Boxer discovery. Although, each breed may have a total different disease. She did say that there are many things we don't know and that it was one part of the puzzle. It is my opinion that whether you intend to breed or just have a family pet that having your dog tested will further the research. The test is only $60 and available now.
She did say that many things can cause DCM, being exercise, diet, etc. And that other genes are likely in play. The test does not tell if you dog will die at 3 or 12 of DCM....and may die of something else.
She also said that affected dogs are missing a chunk of information on a rna strand that produces a protein that fuels the heart muscle. So it is possible that some kind of supplementation could compensate for that. She said taurine and L-carnitine was not useful. I'm sure there will be more information on this and more research.
Unlike Vwd, and much more serious....this gene is dominant meaning 1/2 the puppies has a potential to have DMC when bred to a clear. In Vwd a carrier to a clear produces 1/2 clear, 1/2 carrier and none will bleed from Vwd. Wow...
Finding out if you dog is carrying one or two genes is important. She did say that you can not just bred dogs without the gene and suggests that a carrier to a clear dog would give you half of the litter that was clear and none with two of the genes. She said it would take many years to breed this gene out of the dogs because you will lose some of the good things that come with it.
Still research to be done....one clue. Did anyone else get information on this presentation?
Shadowlands
10-04-2010, 06:17 PM
Thanks for the update RKCM. Figured it would be just the beginning, but nice to hear about the progress and maybe, eventually, we will be rid of this devastating disease. Baby steps I suppose. Lol! We just have to make sure we move slow, we don't want to lose the integrity of our dogs for the sake of riding the breed of this disease.
Panama
10-04-2010, 06:42 PM
Glad I sat in on the live stream. Alot of good info yet alot left to find (if that makes any sense).
From what I got, there are only 2 results Negative or Positive, yet there are actually 2 possible Positive results. A Positive/Negative & a Positive/Positive. So, there are actually 3 possibly result, but I didn't catch if they would be able to tell us if a dog carries 1 mutated gene or 2. Did you catch anything on that Becky?
A Positive/Positive would mean both genes are mutated.
A Positive/Negative would mean only 1 gene is mutated.
A Positive/Positive doesn't mean the dog will drop dead before 10, but they are at greater risk.
There will be 3 choices on the sample form...
1. Only post Negative results
2. Post any results
3. Do Not post results regardless
So, like Dobequest, this info will only be as good as the results that are actually provided.
I will be ordering swab kits.
ADD: And it was clearly stated that removing Positive/Negative & Positive/Positives from all breeding programs would be detrimental to the breed.
I just rewatched the film, thanks Sandy and FB.
She did say that you can't just take dogs without the mutation and breed just those dogs. When that was done in other breeds, it had sever affect on the breed. She talked about a breed that had blindness. The rid the breed of blindness by breeding only those that didn't have the gene. They ended up with dogs that were epileptic and no known cause. She recommended breeding dogs that didn't have the mutation with those that had one good and one mutation. She said you wouldn't necessary not breed those puppies that inherited one gene. You would use the ones that were neg. for the mutation and maybe those that only had one gene mutation. Slowly having more negatives over time. She said that deleting even 10% of the breeding dogs could have a change in the breed, that may carry other problems.
On the dogs that had two mutation genes, she suggested if the dog was of superior quality, a dog of the lifetime, that you could breed it to a bitch that is negative of the mutation and go from there. This way you save you life and get rid of the disease over time. They are the dogs with the most sever cardio and not what I would want to do though.
It was important to know that dogs may still get DCM from other causes. Humans have 24 genes related to Cardio. In the same token, some dogs may not develope it or die of other reasons. There is a lot unknown at this point. She did say researching the pedigree for longivity and cause of death was an important part of an educated decision.
This is how I understood it and may not have everything just right. Please jump in if I heard any of this wrong. I think the sure implication should be test you dogs and contribute by allowing you dog to be tested whether you are breeding or not. The $60 goes into research and it's nonprofit and will benefit the breed.
They can tell if this gene it mutated in the mitochondria DNA. There are different kinds of Cardio. DCM just means a muscle disease which can have other causes.
An easy way to think of it, Pam is that each dog has 2 genes....so the combinations would be GG=two mutated genes (Homo) or Gg=One mutated genes (Hetero), or gg=no mutated genes. So answering your question, yes they know.
The problem is that it is autosomal dominant which means a dog with Gg will have the disease. And if bred to a dog that is gg, still have the pups will have it.
Hope that makes sense.
Shadowlands
10-04-2010, 09:29 PM
She also mentioned that she was certain there were at least two 'strains' of cardio as she had seen those dogs with the arrythmia but tested negative for the mutated gene, as well as those of course with the enlarged heart. Also should anyone think the test results were wrong, they will retest for free.
I do think that we should supply as much information as possible and also allow that information to be posted. After all, aren't we all just trying to make our breed healthier? Isn't that the whole point of these tests? But that is a personal decision in the end. They have given us all a heck of a lot of information and left us with questions too. ;-)
The bottom line for me is that testing will further the studies and hopefully, improve the health of our dogs. This is why all dog should be tested. It gives the researcher more dogs to study. At $60, why not test?
Panama, did you get your test swap yet? I wonder how long it takes for the test. Or to get the swaps? Just wondering how my dogs will come out. I order a test for them all yesterday.
I wonder how many breeders will test.....But sure would be nice to get a result that they don't carry it.
This is the recommendation and explaination:
EVALUATION FOR THE CANINE DILATED CARDIOMYOPATHY MUTATION
Dilated Cardiomyopathy Mutation (DCM) is a form of heart disease in the Doberman Pinscher dog. It is inherited and our laboratory has identified a mutation responsible for the gene in some Doberman Pinscher. However, it should be noted that in human beings with the same disease, there are many different genetic mutations which can cause this disease. We do not yet know if this is the only mutation in the Doberman Pinscher or if there will be many different mutations. Please keep in mind that we are continually learning about this disease and recommendations will be altered as we obtain more information.
Currently our interpretation of the test is:
Negative results:The absence of the mutation in this dog, DOES NOT mean that it will never develop the disease. It means that it does not have the only known mutation that can cause the disease in the dog at this time.
Positive Results:Dogs that are positive for the test will not necessarily develop significant heart disease and die from the disease. Some dogs will develop a very mild form of the disease and will live quite comfortably, some may need treatment.
Importantly, breeding decisions should be made carefully. At this time we have do not yet know what percentage of Doberman Pinscher will be positive for the mutation. However, removal of a significant number of dogs from the breeding population could be very bad for the Doberman Pinscher breed. Remember that dogs that carry this mutation also carry other important good genes that we do not want to lose from the breed.
Positive Heterozygous (1 copy of the mutated gene and 1 copy of a normal gene) Dogs that are positive heterozygous should be carefully evaluated for signs of disease (Holter monitor and an echocardiogram). If abnormalities are detected, possible treatment options should be discussed with your veterinarian. Adult dogs that do not show signs of disease and that have other positive attributes could be bred to mutation negative dogs. Puppies may be screened for the mutation and over a few generations, mutation negative puppies may be selected to replace the mutation positive parent and gradually decrease the number of mutation positive dogs in the population.
Positive Homozygous (2 copies of the mutated gene). We recommend not breeding the homozygous dogs. Dogs that are homozygous for the mutation appear to have more significant disease and will certainly pass on the mutation.
Kathryn M. Meurs, DVM, PhD (meurs@vetmed.wsu.edu)
Professor, Richard L. Ott Chair of Small Animal Medicine and Research
Washington State University- College of Veterinary Medicine
http://www.vetmed.wsu.edu/deptsVCGL/doberman/TestResults.aspx
Above is the list of those people that have tested their dogs and shared the results.
We got our swabs and will be sending them off soon. Maybe celebrating or crying, but it has to be done. All breeders should be participating in this test and study. It's for the dogs.
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