Neurodegenerative Disease in AmStaffs...article

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Postby TheRedQueen » September 6th, 2010, 8:19 am

http://www.sciencedaily.com/releases/20 ... 103533.htm

Gene Responsible for Neurodegenerative Disease in Dogs, Possibly in Humans, Discovered
ScienceDaily (Aug. 24, 2010) — A North Carolina State University researcher has helped to locate and identify a gene responsible for a fatal neurodegenerative disease that affects American Staffordshire terriers. This same gene may be responsible for a similar rare, fatal disease in humans. Its discovery will lead to improved screening and diagnosis of the disease in dogs and is the first step in working toward a cure for both canines and humans.


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Dr. Natasha Olby, associate professor of neurology, was part of a multi-national team of researchers who located the gene responsible for a variant of neuronal ceroid lipofuscinoses (NCL), a family of diseases that result in mental and motor deterioration -- and eventually death -- in the dogs.

The team's results were published in the Aug. 17 issue of the Proceedings of the National Academy of Sciences.

NCLs, while rare in humans, are most common in children, although an adult-onset form of the disease -- known as Kufs' disease -- does occur. In this adult disease, neurons within the brain gradually die, causing loss of vision, epilepsy, dementia and loss of coordination.

Olby saw the first case of a canine version of adult-onset NCL in American Staffordshire terriers in 2000. Over subsequent years, she found that the disease was a widespread and hereditary problem within the breed, affecting one of every 400 registered dogs. The disease kills the neurons in the cerebellum, which controls balance. Over time, the cerebellum shrinks, motor control deteriorates, and the patient dies or is euthanized.

"The disease became so prevalent because it was a recessive disease with a late onset," says Olby. "Carriers of a single copy of the mutated gene never develop symptoms, and dogs with two copies of the gene might not show symptoms until five or six years of age, so the mutation was able to take hold in the breeding population."

Through genetic analysis, the research group was able to locate the specific gene -- an entirely novel mutation that has not been reported in people. According to Olby, the novel nature of the mutation means that researchers can now test samples from humans with NCL to determine whether this same mutation causes Kufs' disease in people.

"The canine disease is a good model of the adult human form of the disease," says Olby. "We hope that this discovery will provide insight into the development of this disease."


I've never heard of this disease. :| But I figured I'd share the article!
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Postby Malli » September 6th, 2010, 12:38 pm

never heard of it either, but there is lots of stuff that never gets fully diagnosed out there...
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Postby call2arms » September 7th, 2010, 6:32 pm

Never heard of it either. I wonder if it's common enough (1 out of 400 dogs is enough to me) for breeders to screen for that gene? Probably expensive as hell though.
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Postby Leslie H » September 7th, 2010, 9:38 pm

I'm familiar w/ataxia in amstaffs. It is a later onset disease, so dogs may not be symptomatic until after breeding age. I believe they start loosing balance, and gradually loose motor control. There is a condition called NCL in American Bulldogs, another degenerative neurological condition. There are DNA tests for both of these.


http://www.amstaff.org/documents/cafindabnormalgene.pdf

http://www.antagene.com/index.php?page_id=410&rubrique_id=144&coderub1=2&coderub2=0&coderub3=2&langue=L2&menu=

http://www.caninegeneticdiseases.net/CL_site/sympAMBD.htm
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Postby Malli » September 8th, 2010, 3:28 am

thanks for the link!
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Postby call2arms » September 8th, 2010, 11:28 pm

Leslie: do some breeders actually routinely test for that?
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Postby BullyLady » September 9th, 2010, 12:56 am

call2arms wrote:Leslie: do some breeders actually routinely test for that?


Any reputable AB breeder does, this disease is a big deal in the AB world. Some people won't even purchase non symptomatic carriers.
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Postby TheRedQueen » September 9th, 2010, 9:07 am

Huh...interesting! Thanks for all of the info, ladies! :)
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Postby call2arms » September 9th, 2010, 10:28 am

Oh I meant more in the AmStaff breeder world. I had no idea it was so common in AB's though, it's nice that they're trying to get it out of the gene pool.
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Postby Leslie H » September 9th, 2010, 10:09 pm

There absolutely are some staff breeders who screen, however, I can't speak to what % of breeders that do. I used to follow some of the initial results. There were some popular lines that were really riddled.
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