Wednesday, August 25, 2010

Gene for Pit Bull Brain Disease Identified

From the ScienceBlog comes news that the gene responsible for a genetic disorder in American Staffordshire Terriers (aka Pit Bulls) has been identified.

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.

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....

....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.”


Though this class of diseases appears to be more common in Am Staffs, it has also been found in many other dog breeds, including Tibetan Terriers, Dalmations, Labrador Retrievers, Border Collies, English Setters, American Bulldogs, Dachshunds, Polish Lowland Sheepdogs, Miniature Schnauzers, Australian Shepherds, Australian Cattle Dogs, and Golden Retrievers, among others.

The disease tends to start late, and progresses over several years to include poor coordination, difficulty in swallowing, vision and hearing loss, rapid motion of the eyeball (nystagmus), and voice changes. In later stages, there may be seizures, tremors, and gait abnormalities.

A test for NCL is available for Tibetan Terriers, Dachshunds, Border Collies, American Bulldogs and English Setters.
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