Scientists Discovered a Gene Mutation Which May Cause a Rare Eye Disease in Dogs

According to a study in the Aug. 8 online issue of Genome Research. a specific variation on chromosome 5 was associated with cone-rod dystrophy (CRD) in wire-haired dachshunds,

If the mutation is also linked to the condition in humans, and researchers think it might be, this could point the way to new therapies.

Senior study author Frode Lingaas, a professor at the Norwegian School of Veterinary Science in Oslo says, that the implications for dogs is that they have the possibility to reduce the frequency of this mutation in the population, and in this way immediately avoid new cases of CRD caused by this mutation,

Cone-rod dystrophies are a relatively rare family of eye diseases involving the progressive deterioration of cone function in the retina.

As per the experts -the retina of the eye, which receives visual images then transmits them to the brain, has two main components: rods and cones.  The cone cells are basically responsible for our very sharp, central vision. That’s what allows us to read and see things far away and also provide us with color vision, The rods basically provide us with our peripheral or side vision, and with our nighttime vision. At night, our cones don’t work too well. Our rods are what enable us to get around in the dark.

People with CRD develop dayblindness, which can progress to total blindness.

CRD does run in families and, while a few genes have been associated with the condition, others are likely implicated, the authors stated.

One gene mutation had been linked with CRD in miniature long-haired dachshunds, but genes have not yet been implicated in wire-haired dachshunds and pit bull terriers, breeds which also can develop CRD.

Researchers at the Norwegian School of Veterinary Science and the Broad Institute of MIT and Harvard did genome-wide analyses on 13 wire-haired dachshunds with CRD and 13 without the disorder.

A mutation in a portion of the nephronophthisis 4 (NPHP4) gene on chromosome 5 was deleted and appears to be responsible for hereditary CRD in this dog breed. Interestingly, the same gene has been linked with a combination of eye and kidney disease in humans.

The findings could help dogs and, hopefully, one day, humans.

Source:Mid Line Plus [www.nlm.nih.gov/medlineplus/news/fullstory_67916.html]

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