Identification of new CA gene in dogs may help humans with CA!

I found this on the internet today.

re possible help in human diagnostics


The research... revealed marked neuronal-loss in the cerebellar cortex of affected Finnish Hound puppies. By comparing the genomes of affected & healthy dogs, the cause of the disease was pinpointed to a single nucleotide change in the SEL1L gene. The nucleotide alteration causes an amino acid change in the encoded SEL1L protein.

"The identified ataxia gene is the first early-onset degenerative cerebellar ataxia gene... identified in dogs", says professor Hannes Lohi. In addition to Finnish Hounds, cerebellar degeneration has been identified in several other dog breeds.

"The SEL1L gene has not been previously connected to cerebellar ataxias in any species, & it represents
a novel candidate gene for human early-onset ataxias", Lohi continues. "In fact, we have already screened a small cohort of human patients for possible disease-causing SEL1L mutations."

That's pretty exciting news Kati! Hopefully, this will bring the researchers a little closer to a cure! Thanks for the link! ;o)