Discovery Could Eliminate Harmful Gene Mutation in Dogs

A genetic mutation that causes a neurological disorder called sensory ataxic neuropathy (SAN) in Golden Retriever dogs has been identified by Swedish scientists.

Dogs with SAN have uncoordinated movement and sensory problems. The symptoms appear when affected dogs are puppies.

The Swedish team found that SAN is caused by a one-base pair deletion in the mitochondrial tRNA-Tyr gene. The mutation leads to mitochondrial dysfunction, which causes a progressive loss of neurons.

Identification of the mutation enables genetic screening tests to identify carriers and prevent transmission of the mutation to future generations, the researchers suggested.

The study findings, published in the journal PLoS Genetics on May 29, may also help scientists research similar mitochondrial disorders in humans and could potentially be used to test new therapies, the study authors note in the release.

"This is a good example of how a close collaboration between clinicians and geneticists led to a rapid detection of a harmful mutation that can now be eliminated from this dog population to reduce suffering and disease," study co-author Karin Hultin Jaderlund said in a journal news release.

More information

Johns Hopkins University provides details about sensory ataxic neuropathy.

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