Researchers find connection in old English sheepdogs and gordon setters
A link between a mutation in a gene called RAB 24 and an inherited neurodegenerative disease in old English sheepdogs and Gordon setters has been established by researchers at North Carolina State University.
Scientists say the findings could help understanding of neurodegenerative diseases and identify new treatments for both canine and human sufferers.
Hereditary ataxias are the third most common neurodegenerative movement disorder after Parkinson’s and Huntington’s diseases.
Neurons in the cerebellum that control movement begin to die, causing a gradual loss of coordination.
Researchers say hereditary ataxias are also recognised in certain breeds of dog, including the Old English sheepdog and the Gordon setter.
North Carolina state neurologist Natasha Olby and a team of researchers from the National Institute on Aging and the Broad Institute of MIT and Harvard mapped ataxia genetically in the families of 630 Old English sheepdogs.
Eventually they mapped the disease to a gene, RAB 24, located on chromosome 4.
A mutation in RAB 24 was closely associated with development of the disease, and on screening of affected dogs of other breeds, the identical mutation was also found in Gordon setters.
“Rab 24 is a protein that is believed to be important to the process of autophagy – which is how cells cleanse themselves of waste,” said Dr Olby says.
“We know that autophagy and neurodegeneration are connected, so pinpointing this protein is important to our understanding of the disease process.
“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.”
The findings appear in PLOS Genetics.
The research was funded by the American Kennel Club Canine Health Foundation with additional support from the Old English Sheepdog Club of America.
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