EIC article from Retriever Journal
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    windycanyon's Avatar
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    DefaultEIC article from Retriever Journal

    I think this preview that RJ sent out today is going to be a powerful tool in educating the general buying public about the disorder.

    http://www.retrieverjournal.com/pass...parjmar09.html

    After you read it, I have a request out of curiosity. I'd like to know how many of you would have asked about EIC testing on parents of prospective litters BEFORE you read this, and how many are going to ask about it now?

    Anne

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    We had never her of this disorder before our last lab. She started to exhibit symptoms around 1 1/2 years of age. It was always random and more prevalent in the hot weather. My husband scoured the internet looking for answers and finally found info on this and presented it to our old vet. He knew very little about it as well. When we mention it to people now (including vets and breeders) they look at us like we are from outer space making an excuse for our dog's "lack of stamina".

    Glad this is getting some attention.

    White Springs Midnight Black Coupe de Ville
    aka "Cooper"
    "I have a simple philosophy. Fill what's empty. Empty what's full. And scratch were it itches." ~ Alice Roosevelt Longworth

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    I just got on a list for a puppy a few weeks ago - we asked about EIC. Thanks for sharing the article, glad someone is getting the word out

    Only after the last tree has been cut down, only after the last river has been poisoned, only after the last fish has been caught, only then will you find that money cannot be eaten. - Cree prophecy

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    Before I found this forum (as a labrador layperson, if you will) I knew to ask about hips, maybe elbows, but elbows weren't as "important" as hips.

    Now, I will/would ask about EIC, heart, eyes, CNM, as well as others (allergies, GI issues, seizures etc). Because of this article and other postings (mostly by you Anne, regarding EIC/CNM! )
    Kate
    Baloo - 5 year old black lab
    Peanut - 7 year old minpin
    Monster - 3-ish year old frenchie/jack, rescue
    We're Superdogs!


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    Quote Originally Posted by Baloo317 View Post
    Before I found this forum (as a labrador layperson, if you will) I knew to ask about hips, maybe elbows, but elbows weren't as "important" as hips.

    Now, I will/would ask about EIC, heart, eyes, CNM, as well as others (allergies, GI issues, seizures etc). Because of this article and other postings (mostly by you Anne, regarding EIC/CNM! )

    Great! Just for the record though... I honestly think sound elbows are MORE important to have than hips due to more weight being born on the dogs front (at least 60%). Many dogs can live without much issue w/ HD but many elbow issues are often very debilitating. Anne

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    Bob Pr. is offline Senior Member
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    I'd heard of hips, eyes, seizures, but EIC was unknown when I got Puff (2001). Having seen an AKC Lab suffer with it, it'd now be one of the things I'd want tested.


    Puff [YF, AKC field line (from competing HT/FT breeder) 62 lbs, dob: 8-'01]

    Bess [BF, AKC bench line (from competing show breeder) 55 lbs., 1967-1981] "Poor Bess, the Wonder Dog":
    http://forum.justlabradors.com/showt...?p=748#post748

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    Quote Originally Posted by windycanyon View Post
    Great! Just for the record though... I honestly think sound elbows are MORE important to have than hips due to more weight being born on the dogs front (at least 60%). Many dogs can live without much issue w/ HD but many elbow issues are often very debilitating. Anne
    I agree, the idea that hips were more important was an old one, my view has most definitely changed since then!
    Kate
    Baloo - 5 year old black lab
    Peanut - 7 year old minpin
    Monster - 3-ish year old frenchie/jack, rescue
    We're Superdogs!


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    meandclint is offline Senior Member
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    It's important to remember that there are many uncommon heritable conditions that can occur in Labradors and any breed of dog for that matter. I personally know literally hundreds of show bred Labradors very well in the last 12 years and I don't know anyone who has one with EIC. I'm not saying that it isn't out there but it's very uncommon.

    It's also important to know that the gene that this company found is "highly associated" with EIC and having two copies does not mean the dog is affected and so it DOES NOT ACTUALLY CAUSE THE CONDITION. In fact only 70% of the dogs they have tested that have both copies of the gene with their skewed participants (naturally people with affected dogs sent in blood first and with more prevalence than those that have never even heard of this) are actually affected. So 30% of those that the company is saying should be affected are not and many of these are older very active dogs (competing in hunt tests, etc).

    I'm not saying that a perspective puppy buyer should not be informed and it's important to ask a lot about health and soundness however making sure a breeder is testing for EIC then should go along with x-raying hips, elbows, shoulders, hocks, and wrists, testing for hypothyroidism hyperthyroidism, allergies, Von Willabrand's Syndrome, etc. I personally like to know that several generations and laterally are healthy and sound.

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    Perhaps I should ask one of the U of MN researchers to comment on the above... seems that some folks still don't understand the language used in the "community". IOW... they (U of MN) are confident they have the gene. I've not yet SEEN PRA personally either, but know of several folks w/ dogs that have it, for whatever that is worth (and I own Carriers that are only bred to Clears).

    Tell ya what, you do what you feel comfy with, and I'll do what I'm comfy with. I need to be able to sleep well at night w/ my decisions.

    In the end, remember you are on a public forum and... well, buyers beware.

    PS, here is the link to the EIC page for others to read for themselves. The above poster is apparently so misinformed I just don't personally know where to start: http://www.vdl.umn.edu/vdl/ourservic.../faq/home.html
    Last edited by windycanyon; 04-09-2009 at 11:45 PM.

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    Katie Minor is offline Junior Member
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    DefaultSome Info

    EIC is a gene mutation test.

    We are testing for a single DNA base pair change in a specific gene, the DNM1 gene; therefore this can be referred to as a gene mutation test. This situation is different from other types of genetic tests that describe only the identification of a DNA marker that could be very far away from the EIC gene, and not be as highly predictive of the true gene and mutation as desired. The results for this EIC mutation test will always be the same for samples provided from the same dog.


    Why say "highly associated" and not causes:

    Scientists are always cautious in reporting conclusions regarding data to other scientists and to the public, and in so doing usually try not to state anything has a 100% certainty of being correct. However, the chances that the DNM1 mutation is not associated with EIC are less than 1 in a trillion as reported in our Nature Genetics article. Nature Genetics is one of the most respected and prestigious scientific journals.

    The role of DNM1 in nerve and muscle function clearly supports it being an extremely plausible EIC gene. A description of the precise effect of the DNM1 mutation on the function of the dynamin 1 protein remains before we can even more confidently state that the DNM1 mutation (i.e., E form of the this gene) is the causative EIC mutation.


    Being a carrier of the EIC mutation is very common in field and bench line Labradors. We have tested more than 6,000 Labradors and the carrier rate in our sample population (which is not random, but is large) is >30%. It is estimated that 3-5% of the population is EIC affected. Any disease with a greater than 1% affected frequency in the population is considered to be a major health issue within the breed.

    Lastly, greater than 80% of genetically affected dogs have experienced episodes of collapse by three years of age. Others may not show signs of collapse until later in life. Confirmed first collapse has occurred in dogs as old as age 10yrs. However, even genetically affected dogs that never show signs of collapse do frequently produce collapsing affected offspring. So, while not every dog with the affected genotype will collapse, all dogs with EIC are homozygous for the DNM1 mutation. This is referred to as incomplete penetrance. The variation in the severity of symptoms is referred to as expressivity.

    Opitgen also discuss these terms in their glossary:
    Expressivity - Some diseases are very predictable in terms of age of onset and severity of symptoms. Such a disease is typically “expressed” in the same way in each affected individual. But some conditions, for example Toller PRA, don’t fit this description. They might have very different ages of onset, different degrees of severity, and/or different rates of progression even within the same line, the same pedigree, or even the same litter. One confusing result of reduced or variable expressivity is that a dog can be affected according to a DNA test, yet show no clinical signs of disease until much later, or show only mild and slowly progressing clinical signs of the disease. This dog must not be confused with a case of false positive.

    Penetrance - The extreme case of reduced expressivity is incomplete penetrance. An inherited disease has incomplete penetrance in cases where the individual is known to have the affected genotype, but never shows the clinical disease. Even so, the clinical disease shows up again in its offspring. Clearly, the affected genes were present in the parent but the disease didn’t “penetrate” to a recognizable state. Again, this case must not be confused with a case of false positive. Incomplete penetrance has been documented in some PRA-affected Toller pedigrees.

    I hope this helps.

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