Author Topic: Black Russian Terrier JLPP Research Contributes to Humans. . .  (Read 479 times)

Offline DeeDee

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Black Russian Terrier JLPP Research Contributes to Humans. . .
« on: January 18, 2016, 07:00:22 PM »
This is also relevant to Siberian Husky Research. This was a big fear because (I think Vlad's litter was his sire's last live litter.) Vlad's sire helped throw 2 litters of puppies that all died by the age of 4 months. Both of those dams also carried the gene. Vlad's litter didn't have it because his Dam was JLPP-clear. Very little was known about this disease before the research began. All breeding stock is tested for the JLPP gene now. As long as one parent is clear, the puppies won't get JLPP. The one thing that's known is, death is absolute in bodies that carry the gene from both parents.

JLPP -- Juvenile Laryngeal Paralysis & Polyneuropathy        http://www.caninegeneticdiseases.net/JLPP/

Research and finding the gene that causes JLPP (also now known as "POANV: Polyneuropathy with Ocular Abnormalities and Neuronal Vacuolation") has been found to have a resemblance to a human condition.

A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

In short (taken from a private BRT group):

Quote
There is a lot of description of the research process the verification, and cross testing to prove the theory. Additionally a similar condition in humans and Huskies were determined to be mutations of the same gene.

The microscopic observations show cell abnormalities throughout many areas. A few examples we commonly know like larynx and spine nerves. But also brain, eyes, and muscle. In the case of humans genitals are also involved. Humans are not able to develop beyond the 4 month level. Therefore cannot crawl or walk. They have severely effected brain development and eye abnormalities. (In dogs eyes are very small, pupils abnormal and early cataracts)

Specifically, the research and comparisons made among diseases involving different mutations on this gene is bringing to light other functions and relationships it has with functions of the body.

There is no cure or treatment in humans or dogs, but a better understanding of how it manifests, and the identified wider scope of related conditions, may help make it easier to identify earlier.

If you want to crawl through the whole study:

http://www.sciencedirect.com/science/article/pii/S0969996115300930
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