North Carolina (NC) State University researchers have identified a link between hereditary ataxia in Gordon setters and Old English sheepdogs and mutation in the RAB 24 gene. These findings may help identify new treatments for neurodegenerative diseases in both humans and dogs.

Hereditary ataxia is the third-most common form of neurodegenerative movement disorder among people. Patients with this condition suffer from gradual coordination loss as movement-controlling neurons in their cerebellum begin to die. Hereditary ataxia has been found in certain dog breeds as well, including Gordon setters and Old English sheepdogs.

The study was done by NC State neurologist Natasha Olby and a team of researchers from the National Institute on Aging and the Broad Institute of MIT and Harvard. For this study, Old English sheepdogs had their ataxia mapped genetically. The disease was eventually mapped to the RAB 24 gene on chromosome 4. A gene mutation was linked significantly to the development of ataxia. An identical mutation was found in Gordon setters as well.

Olby said, “Rab 24 is a protein that is believed to be important to the process of autophagy - which is how cells cleanse themselves of waste.” She added, “We know that autophagy and neurodegeneration are connected, so pinpointing this protein is important to our understanding of the disease process.”

She concluded, “We have not yet proven that this mutation causes neurodegeneration; it could simply be a very good marker for the disease […] Our next step will be to determine exactly how the mutation affects the protein Rab 24 and its function and to determine whether this results in neuron death. This gene will also be investigated in humans with hereditary ataxia.”