Veterinary researchers identify gene responsible for neurodegenerative disease in American Staffordshire terriers
In fact, North Carolina State University veterinary college's Dr. Natasha Olby, was part of a multi-national veterinary research team who made the finding that was published in the Aug. 17 proceedings of the National Academy of Sciences.
In essence, the veterinary research team pinpointed 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. And it may 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, NCSU reports. This gene is believed to be responsible for a similar and rare disease in people.
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, NCSU explains. 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," Olby explains. "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," she adds.
Through genetic analysis, the research group was able to locate the specific gene – an entirely novel mutation. “The canine disease is a good model of the adult human form of the disease,” says Dr. Olby. “We hope that this discovery will provide insight into the development of this disease.” The research team included: Marie Abitbol, Jean-Laurent Thibaud, Olby, Christophe Hitte, Jean-Philippe Puech, Marie Maurer, Fanny Pilot-Storck, Benoit Hédan, Stéphane Dréano, Sandra Brahimi, Delphine Delattre, Catherine André, Françoise Gray, Françoise Delisle, Catherine Caillaud, Florence Bernex, Jean-Jacques Panthier,Geneviève Aubin-Houzelstein, Stéphane Blot and Laurent Tiret. Other collaborative institutions include: Alfort School of Veterinary Medicine (Ecole Nationale Vétérinaire d'Alfort: ENVA), France and the French National Institute for Agricultural Research.