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Mutated gene found in dog disease the same in humans, MU researchers find
Date:4/18/2011

COLUMBIA, Mo. University of Missouri researchers believe both man and animal will benefit from their discovery that the same gene mutation found in Tibetan Terrier dogs can also be found in a fatal human neurological disorder related to Parkinson's disease.

Fabiana Farias, a doctoral candidate in Area Genetics at the University of Missouri, found the mutation as part of her thesis research. Gary Johnson, associate professor of Veterinary Pathobiology; Martin Katz, professor of Veterinary Pathobiology, and Dennis O'Brien, a professor in the Department of Veterinary Medicine and Surgery, along with a host of researchers from MU's College of Veterinary Medicine; College of Agriculture, Food and Natural Resources (CAFNR) and the Mason Eye Institute, recently published the findings in Neurobiology of Disease.

The disease in Tibetian Terriers is called adult-onset neuronal ceroid-lipofuscinosis (NCL). Within the dogs' cells in the brain and eye, material that should be "recycled" builds up and interferes with nerve cell function. Due to this buildup, around the age of five years old, the dog begins to exhibit dementia, impaired visual behavior, loss of coordination, and shows unwarranted aggression.

NCL ultimately took the life of Topper, a Tibetian Terrier owned by Lynn Steinhaus of Columbia. Steinhaus said Topper showed increased shyness around age five, and showed a loss of muscle control later. Topper also suffered seizures before he was euthanized in July of 2009. Topper's DNA was used to further the study.

"This is really hard disease for dog owners to go through," Steinhaus said. "Those seizures are just terrible."

While there are many forms of NCL in humans, the symptoms of NCL are similar in people and dogs, and the disease is ultimately fatal for both. Utilizing the canine genome map and DNA samples from dogs diagnosed with NCL, the researchers were able to pinpoint the specific gene that causes NCL.
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Contact: Steven Adams
AdamsST@missouri.edu
573-882-8353
University of Missouri-Columbia
Source:Eurekalert  

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