Neurological disorder in golden retriever dogs caused by a mutation in mitochond

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Neurological disorder in golden retriever dogs caused by a mutation in

mitochondrial DNA

http://www.eurekalert.org/pub_releases/2009-05/plos-ndi052209.php

Sensory ataxic neuropathy (SAN) is a recently identified neurological disorder

in Golden Retriever dogs with onset during puppyhood. Affected dogs move in an

uncoordinated manner and have sensory deficits. Researchers from the Swedish

University of Agricultural Sciences, Uppsala University and the Karolinska

Institutet have now revealed that SAN is caused by a mutation in mitochondrial

DNA. The study is published May 29 in the open-access journal PLoS Genetics.

The researchers were able to trace back all affected offspring on the maternal

side, over more than 10 generations, to a female that lived during the 1970s.

This implied a maternal inheritance, which was confirmed by the identification

of a one base pair deletion in the mitochondrial tRNA-Tyr gene. Further analyses

revealed that the mutation leads to mitochondrial dysfunction, which in turn

causes a progressive loss of neurons.

The researchers showed that about five percent of the current Swedish Golden

Retriever population carries the mutation causing SAN. The identification of the

mutation now allows genetic screening tests to identify carriers and prevent the

mutation being transmitted to further generations.

" 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, " said

co-author Karin Hultin Jäderlund. The study also provides a new animal model for

similar mitochondrial disorders in humans, said co-author Izabella Baranowska,

and could potentially be used for testing therapeutic approaches.