Friday, March 14, 2014

Veterinary Highlights: Hereditary Ataxia - Genetic Link

Researchers from North Carolina State University have mapped an inherited neurodegenerative disease in Old English sheepdogs and Gordon Setters to a specific gene mutation (RAB 24, located on chromosome 4).

This particular protein is believed to be involved in the process of cells cleansing themselves of waste (autophagy).

The inability of cells to perform this task properly and neurodegeneration are connected. It is not clear whether this mutation causes neurodegeneration, but at the very least it could be a marker for the disease.

The next step is to determine exactly how the mutation affects the protein and it's function and whether this results in neuron death.

Source article:
Researchers Find Mutated Canine Gene May Aid Understanding of Neurodegenerative Diseases

Further reading:
Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

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