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Epilepsy Research Report

We have been given a research report by Liz Hansen, Coordinator of the University of Missouri multi-breed Epilepsy study. Specifically, I'd like to draw your attention the highlighted parts which address the Mastiffs and breeds that are derived from the Mastiff.

I am hearing that more owners of Epileptic Mastiffs are starting to participate in the study. This is certainly fantastic news for the research! If you are an owner of an Epileptic Mastiff, PLEASE go to this link and fill out the form to submit blood for DNA sampling. If you are a breeder of Epileptic Mastiffs, PLEASE advise the owners of these dogs that their help is needed. And lastly, if you are an owner of a non-Epileptic Mastiff, please consider donating blood next time a blood-draw is done. Blood from non-affected Mastiffs helps this study immensely.

Remember that the study is totally confidential and is fully funded by the AKC's Canine Health Foundation. Names of dogs or owners are never divulged. Thank you to all of the owners and breeders that have shown their care and support for our breed by donating blood to the study. If you have not yet donated blood, you can help: Click here.

The all-breed canine epilepsy research project at the University of Missouri - Columbia is funded by the Canine Health Foundation, active grant #1845. This research has been underway for nearly 2 years. We hope to identify markers or mutations linked to canine epilepsy in many breeds of dogs. When markers or mutations can be identified, breeders can use them to make informed breeding choices and avoid producing additional affected dogs, while retaining the positive qualities needed in the breed. We are recruiting samples and information from affected dogs of any breed, and samples from their family members. We will be able to make the most progress in those breeds where we have good research families sampled and available to the researchers. The best families for this research are those "breeder's disaster" families where there is more than one affected dog - multiple offspring, or more than one generation with affected dogs. When these affected dogs and their normal relatives (siblings and parents are most critical) can be sampled, researchers can search for differences in the DNA of closely related dogs, and hopefully find the differences that are linked to epilepsy. Any family where an affected dog has appeared is worth including though - we often have to work with less than ideal, and they are useful. Progress is very slow, and dependent on other breeds if we don't have useful families in your breed though, so please encourage all breeders and owners with affected dogs or relatives to participate in this important project.

With the information gathered thus far, we do have some interesting trends appearing. We do not know exactly how to interpret these trends at this time, but will share them with you. In humans and in mice, where the genome maps are far more developed than the dog map, there are over 15 different mutations identified which cause different types of epilepsy. It's likely that there will be a similar variety of mutations found in dogs. By looking at many different breeds, we can compare what we see from breed to breed, and it may help us to find specific mutations. For example, in Standard Schnauzers, there is a distinct sex-bias toward males being affected - nearly 10:1 males affected vs. females affected. This suggested a sex-linked trait, though there were females affected also, so there is more to it than a simple sex-linked trait. Preliminary results in this breed indicate there may be 2 genes working together to produce affected dogs - one on the x-chromosome, and one on another chromosome. The mutations have not yet been identified though. In English and Welsh Springer Spaniels, breeds that are closely related to each other, there is a similar age of onset, progression of disease, and reaction to treatment. There appears to be male bias there also, though not as pronounced as in the Standard Schnauzers. It is reasonable to assume that there may be a common underlying mutation for both these breeds, and what we find in one may apply to the other. We're recruiting samples from other related breeds as well, to see if a common pattern holds throughout the flushing spaniels. In the giant breeds of Mastiff origin, we are seeing no sex bias - it's virtually a 50-50 split of males affected vs females affected. Based on pedigree analysis done elsewhere, the Newfoundland people believe this may be a simple recessive trait in their breed; however, we do not have enough data from Newfoundlands to form any opinion as yet. There do appear to be many similarities of how this disease is expressed in the giant breeds, but again, this has not been critically evaluated, and we do need more data to form any sort of valid conclusion. At present, Greater Swiss Mountain Dogs are the most sampled breed (445 dogs sampled, 23 affecteds), and Saint Bernards are #9 (96 dogs sampled, 19 affected). In the GSMD's and their closest relatives, the Bernese Mountain Dogs, there is a noticeable presence of "flybiting" or "air licking" behavior, which may also be seizure activity - this is another area of investigation. It is possible that all the breeds of Mastiff origin have the same or a similar underlying mutation, and solving it in one breed will help to solve it in others. It's also possible that there are several different mutations at work, or that the dogs having grand mal seizures have a different mutation than the dogs exhibiting flybiting - we simply do not yet have enough information to know. We can only make progress in breeds where we have samples and information though, so it is very important to get your breed involved in the process.

More information can be found on the Canine Epilepsy Network website - www.canine-epilepsy.net. In the "Research" section of the CEN site there is a table of breeds and total numbers sampled for each. Currently Mastiffs are listed with the "other" breeds because we have less than 10 dogs sampled (7 at present, with 2 affected dogs). This table is updated each day that new samples arrive, so it's possible to track the sampling progress of any breed by checking the site.

Any questions, please contact me. I hope we'll see more Mastiffs involved soon!

Liz Hansen
Coordinator of Veterinary Information
Animal Molecular Genetics Lab - Dept. of Vet. Path.
321 Connaway Hall
College of Veterinary Medicine
University of Missouri
Columbia, MO 65211
573-884-3712 (office)
573-884-5414 (department fax)
hansenl@missouri.edu (office email)