Mutation in Dachshunds Provides Insights on Human Patients

August 10, 2008 at 1:30 am Leave a comment

From GenomeWeb news

NEW YORK (GenomeWeb News) – A new mutation detected in dachshunds is providing insights into the genetics behind a group of devastating eye diseases.

In a paper appearing online in Genome Research last night, investigators from Norway, Sweden, and the US used genome-wide studies of just over a dozen dachshund sibling pairs to identify a new mutation linked to eye diseases called cone-rod dystrophy. The mutation, in a gene called NPHP4, is helping researchers pinpoint the molecular changes underlying some forms of the eye disease and, they say, may ultimately lead to new therapies.

 “This gene has been associated with a combination of kidney and eye disease in human patients,” co-senior author Frode Lingaas, a researcher at the Norwegian School of Veterinary Science, said in a statement. “Here, we found a mutation that affects only the eyes, suggesting that this gene might be a candidate for human patients with eye disease only.”

 Cone-rod dystrophy refers to a set of degenerative eye disorders in which the retina loses photoreceptor cells over time. Because these cells help the eye detect bright light, photoreceptor degeneration eventually leads to a condition known as “dayblindness.” It can also result in total blindness in the long run. So far, though, just a handful of cone-rod dystrophy genes have been discovered in humans.

Scientists test specially designed sunglasses
to aid the vision of a dachshund suffering
from dayblindness caused by inherited cone
-rod dystrophy. (Credit: Photo courtesy of
Frode Lingaas, Norwegian School of Veterinary

Sciency Daily reports:

In this study, scientists led by Dr. Frode Lingaas of the Norwegian School of Veterinary Science and Dr. Kerstin Lindblad-Toh of the Broad Institute of MIT and Harvard have identified a mutation in a novel gene for early-onset CRD in standard wire-haired dachshund by genome-wide association mapping of a dachshund family.

Eye disorders are one of the most frequently inherited disorders in dogs, however canine CRD is limited to only a few breeds. A gene mutation had previously been associated with CRD in the miniature long-haired dachshund, while a genetic basis for CRD in the standard wire-haired dachshund and the pit bull terrier remained unknown.

Lingaas noted that identification of causal mutations for diseases has practical implications for dogs, as genetic tests could be implemented to avoid new cases of the disorder and reduce the frequency of the mutation in the population. Furthermore, this investigation of the genetic basis for CRD in dogs could facilitate the development of treatments for humans

The number of studies finding parallels between human and canine genetic disease – and modes to screen for and treat these disorders in both species – seems to be snowballing lately – and the happy results often prove to be a benefit to us and to our canine companions.

Kudos to Dr. Lindblad-Toh and others who are conducting these studies.  We had the opportunity to correspond with Dr. L-T earlier this year when our Zorro’s end was near.  The old man was afflicted with several different genetic disorders and when she contacted us we were glad to provide the laboratory data and blood samples she needed for her research.  It was devastating to lose the old fellow – participating in her research gave us a small ray of hope that his passing might help other dogs, or humans, in the future.


Entry filed under: dogs, health, science. Tags: , , , .

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