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Post by Bitten on Jun 4, 2011 10:17:00 GMT -5
Hi All
The findings in regard to DCM/DNA in Germany - Dr. G. Wess LUPA org. has been published, and is available through the internet.
Sorry, do not have a link to where the papers has been published - for those who would wish a copy of the paper, contact me through e-mail: jotunheims@hotmail.com
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Post by Bitten on Jun 4, 2011 13:24:59 GMT -5
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Post by anneconroy on Jun 6, 2011 10:34:48 GMT -5
Thankyou for sharing this Bitten -- so important. FYI: this concerns a gene that is NOT the one indicated as a mutant by Dr Meurs work and dna test.
anne conroy
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Post by sonterra on Jun 6, 2011 10:52:27 GMT -5
so would someone like to dumb this down for me. Have no idea what their hypothesis was for this study.
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Post by anneconroy on Jun 6, 2011 11:11:12 GMT -5
essentially a search for a gene that causes SOME of the cardio related deaths in dobes -- they believe that what they have found (population was UK and Europe) relates to about half of those with DCM. They are very clear to talk about various genetic causes -- but capturing 50% is pretty good.
No test availible at this point -- they are doing more work.
ac
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Post by Cassie on Jun 6, 2011 11:14:43 GMT -5
Dumb down coming, but Bitten may be able to do it quicker than I can.(Read, Understand, Dumb down! And I have 5 hours of work left for today...  ) (note, I have to dumb it down for myself anyways, may as well compare notes.) EDIT: Thanks ac! |
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Post by Bitten on Jun 6, 2011 14:07:32 GMT -5
DUMB DOWN ...
1: we now have 2 mutations, both related to DCM
2: the 2 mutations have been found on 2 different chromosomes
3: both mutations have been said to be autosomal dominant
4: when there are more than ONE gene to give indication of a disease - the suposed heritage is that of polygenic heritage
Hope that helped ...
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Post by anneconroy on Jun 7, 2011 17:05:45 GMT -5
Comments to Bittens post -- the just released article does not use the term mutation. Causes of DCM are believed to be autosomal dominant (this current paper quotes the sames sources as Dr M's -- so this isn't new -- just restated).
This current paper does not mention their popuation as being tested for the mutation noted by Dr M. Because of this seeming hole in their research, I asked the corresponding author of the new paper about Dr M's work.
I don't want to misquote here as it was in a casual e-mail and these are scientists trying to help us out, however, what I can say is that this new work and its authors DO NOT -- I repeat -- DO NOT confirm Dr M's work.
Actually, it is my understanding, that they did not find evidence to support Dr. M's work!! I have asked them to provide something in writing that would address this as the DNA marker test results are affecting who people breed to and what they keep for future breeding stock -- this is such a BIG ISSUE.
I havn't heard back yet. I'm hopeful they will provide something.
anne conroy
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Post by Bitten on Jun 7, 2011 18:19:50 GMT -5
Comments to Bittens post -- the just released article does not use the term mutation. Causes of DCM are believed to be autosomal dominant (this current paper quotes the sames sources as Dr M's -- so this isn't new -- just restated). This current paper does not mention their popuation as being tested for the mutation noted by Dr M. Because of this seeming hole in their research, I asked the corresponding author of the new paper about Dr M's work. I don't want to misquote here as it was in a casual e-mail and these are scientists trying to help us out, however, what I can say is that this new work and its authors DO NOT -- I repeat -- DO NOT confirm Dr M's work. Actually, it is my understanding, that they did not find evidence to support Dr. M's work!! I have asked them to provide something in writing that would address this as the DNA marker test results are affecting who people breed to and what they keep for future breeding stock -- this is such a BIG ISSUE. I havn't heard back yet. I'm hopeful they will provide something. anne conroy Anne No, the paper presented by the Germans do not confirm the findings by Meurs - as the mutations have been found on 2 different chromosomes. Meurs on one chromosome and the Wess group on another chromosome - as these 2 different chromosomes are not directly related / linked - places in different areas - neither of the findings will be able to comfirm the one or the other - Yes, the German findings is a mutation, just as the findings by Meurs is a mutation. No, the Germany group have not set forward any breeding tactics. Each individual gene mutation can be autosomal dominant - but when you have more than one gene mutation or genes as such, to indicate the same/similar disease / heritage - the "total" heritage is more likely to be of polygenic nature - this might also explain the variation within the penetrance of the disease, and the variation within the onset of the disease. |
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Post by anneconroy on Jun 8, 2011 9:07:52 GMT -5
I am sure that we both have an interest in trying to make this complex health issue clearer -- to that end here is the complete message I got from the corresponding author -- food for thought!!
We need to remember that the science in this area is incomplete and not agreed upon by the "experts".
You will see below that they were not able to validate the results of Dr Meurs. This does not mean they did not try to do this. I have asked for their data on their lack of validation -- nothing yet. Might take a little while to get that, sad to say.
So, my point is that while there may be mutations that have been identifed, the doberman breed community does not have a confirmation from another scientific source that Dr Meurs work is valid.
To be clear, I am not saying it is or isn't -- just sharing information.
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Post by sonterra on Jun 8, 2011 11:00:42 GMT -5
Hi Ann,
Do we have permission to cross post this?
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Post by anneconroy on Jun 8, 2011 12:41:28 GMT -5
Let me ask the guy if that is ok -- it would be better to have something official from these people --
ac
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Post by Bitten on Jun 8, 2011 12:44:04 GMT -5
YES - Anne in any way possible ... it's eating me up - we need answers for the sake of the breed.
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Post by aweaver on Jun 9, 2011 10:13:46 GMT -5
Before you make it sound like Dr. Meurs work is not valid, please understand that her work has been peer reviewed and considered "valid" by many scientists. Not only that, but the metabolic pathway where she has discovered the mutation is a clear "connect the dots" from the mutation to the disease. I understand that many people who do not understand genetics are skeptical of a gene with where some dogs get the disease and some dogs don't. It does not meant that it is not a valid finding.
You can think of it being analogous to the BRAC2 gene in women. Some women with the gene get breast cancer, but that doens't mean that all women with that gene get breast cancer.
I am excited that we are finally finding the mutations that kill so many of our dogs. There will absolutely be more than one mutation involved and until we find them all, we will not be able to rid our breed of this horrible disease. But each discovery gets us a bit closer!
Alissa
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Post by anneconroy on Jun 10, 2011 9:32:03 GMT -5
I was simply stating that the science is at the cutting edge -- and there seems to be some disagreement about results. As Dr Meurs has stated, there are several different systems involved in DCM -- it could be that the mutations identified are related to different system, or different gene pools or  We just do not know alot about what is going on -- and YES, the research is so important. And so it our understanding of what is happening. |
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