Tuesday 19 June 2012

Gene Mutation Linked to Mysterious Brain Disease in Dogs


A subset of Finnish hound puppies need to be put down every year because they suffer from a degenerative brain disease that causes uncontrolled movement. Luckily, researchers have identified the gene that causes this disease, and developed a test to screen for it.

The brain disease, known as cerebellar ataxia, leads to progressive loss of brain matter in the dog's cerebellum, the region of the brain responsible for control of the body's movements and some cognitive functions. As this brain region degenerates, motor coordination during walking, speech, gaze and balance goes. If the dog has the gene, symptoms of this degenerative disease start showing up around 2 months of age. There are no treatments, and the dogs are put down shortly thereafter. 

"The identified ataxia gene is the first early-onset degenerative cerebellar ataxia gene that has been identified in dogs," study researcher Hannes Lohi, of the University of Helsinki in Finland, said in a statement. "The SEL1L gene has not been previously connected to cerebellar ataxias in any species, and it represents a novel candidate gene for human early-onset ataxias."

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