Buddy's owner Regina Enzinger has made the footage public to help raise awareness and funds for research led by Professor Dr Tosso Leeb at the University in collaboration with canine epilepsy guru Prof Dr Hannes Lohi at the University of Helsinki.
Their aim is to isolate the gene or genes and develop a new DNA test for Goldies.
More about the project and how to donate here.
The video is really just an image.
ReplyDeleteIt wasn't displaying correctly on mobile... but should be now?
DeleteAll I see is the footage about Boxers and JKD from PDE2.
DeleteI think must be a mobile glitch - it's fine here.
DeleteHow did I not know about this? Is it because so much focus is on cancer and hip dysplasia?
ReplyDeleteI hope they find something. Based upon what we have learned they will likely need significantly more than 100 affected dogs plus the same number of appropriate control healthy dogs and will need to use canine gene chips with at least 173k SNP markers for a GWAS.
ReplyDeleteSounds expensive.
DeleteThere is a significant upfront price tag for the study, but the potential payoff is much much much much bigger.
Delete1. possibility of reducing the incidence of epilepsy
2. with gene(s) located there is the potential of finding better drugs to block the pathways that lead to seizures in affected dogs
3. gene(s) found in dogs may be analogous to gene(s) responsible in humans
Oh how sad, poor Buddy, it's a terribly distressing thing for a dog and owner/family.
ReplyDeleteI have a sister in Vienna Austria who bought a Bernese mountain dog cross Golden Retriever, absolutely beautiful dog, he also had it, almost his entire adult life.
I loved that dog so much and he was such fun. Completely untrained but you could just point and he would do. I had him leaping over the garden furniture, up banks over flower beds through ponds, retrieve, catch......nothing too high wide big or small and he would do. Anyones shadow who would play with him. Athletic and bright never pushy, just calm, absolutely lovely animal and lovely to look at as well. Extraordinary with the children, two rather delicate little girls. Never bossy as gentle as can be. Mouth like a silk glove.
They simply adored him. It was a devastating tragedy for them every time he had a fit.
I will definitely be contributing and sending the link to my Austrian family who I know will be more than delighted to do the same.
Epilepsy is moderately common (3% or more) in many breeds (Labs, goldens, Border collies, boxers, Bostons that I'm aware of but probably many more), and not unknown in cross breeds. Much of it is in the form of focal seizures, sometimes no more than a minute or two of fixed staring or uncoordinated movement. Some is juvenile onset, some hits young adults, some it typically later in life.
ReplyDeleteI suspect there are multiple causes of epilepsy, some of them inherited, some triggered by environmental factors (eg., my old Labbie started having focal seizures after licking topical flea treatment off a puppy. After a couple years on medications, she seems to have overcome the seizures). I doubt that epilepsy problems are breed specific. While there's need for epilepsy research, I don't think a breed specific approach is the way to go. . . . though starting in one breed could have some basis.
Some epilepsy problems are undoubtedly breed specific (17 x the usual rate in Tevurans for example), and several breed-specific seisure genes have been found - e.g. in the Lagotto Romagnolo.
Deletehttp://www.vetmed.helsinki.fi/english/news/110802_lohi_lagotto.html
Jennifer, you say your Labbie started having seizures after licking topical flea treatment off a puppy, was it proven that this was the cause or you have just assumed it the cause. The fact that your Labbie then had seizures for a couple of years, I suspect the the licking of topical flea treatment off a puppy was just a coincidence not the cause, as if the cause it would be unusual for fits to carry on for that length of time.
DeleteEpilepsy effects dogs across the board whether a mutt or pure breed, but what is certain is that in some pure breeds we see occurrence of it had a lot higher rate than in the general dog population. This would be an indicator towards it being often of genetic origin.
Especially when you see pedigrees in breeds where Epilepsy occurs in several generations, often several in a litter will go on to have Epilepsy, when having close relatives that have Epilepsy.
With epilepsy, seizures tend to recur, and have no immediate underlying cause, while seizures that occur due to a specific cause are not deemed to represent epilepsy. Most cases of epilepsy are unknown, although some dogs can develop epilepsy as the result of brain injury, stroke or a brain tumour.
A breed by breed approach seems to be working for these researchers:
DeleteIdentification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene
Lotta L. E. Koskinen123, Eija H. Seppälä123, Janelle M. Belanger4, Meharji Arumilli123, Osmo Hakosalo123, Päivi Jokinen123, Elisa M. Nevalainen123, Ranno Viitmaa5, Tarja S. Jokinen5, Anita M. Oberbauer4 and Hannes Lohi123*
http://www.biomedcentral.com/1471-2164/16/465/
(open access)
The geneticist working on our study believes that there are multiple mutations that have been present in dogs prior to breed formation. If this is correct, then breed formation could have increased the rate of one or more of these mutations within a breed. His belief is certain combinations of these mutations increase the likelihood of seizures which can be triggered by external factors.
ReplyDeleteI think I've just about given up on this breed. Very few people breed the type I like.
ReplyDeleteAnd their health, while not totally in the toilet, isn't getting any better.