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Gene Behind Dogs' Neurodegenerative Disease Causes Human Illness

by Rathi Manohar on August 26, 2010 at 9:04 PM
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 Gene Behind Dogs' Neurodegenerative Disease Causes Human Illness

A gene that causes a neurodegenerative disease in dogs may also be the cause for a similar fatal disease in humans, claim scientists.

According to researchers, 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.


Dr. Natasha Olby, a North Carolina State University researcher, 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.

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.

Through genetic analysis, the research group was able to locate the specific gene - an entirely novel mutation that has not been reported in people.

The results has been published in the Aug. 17 issue of the Proceedings of the National Academy of Sciences.

Source: ANI

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