Tuesday, July 19, 2005

Autism gene - at least one of them?

BBC NEWS | Health | 'Gene test' for autism in sight

This sounds like it could be extremely helpful for ongoing research. I suspect it won't have clinical implications for some time -- if ever. The relatsionship to the cerebellum is interesting; I've long been interested in the remarkable problems some children with autism have at hitting a baseball. It seems almost a pathognomic feature.
By analysing the DNA from these individuals they found a region on chromosome 16 - PRKCB1 - appeared to be linked with autism.

PRKCB1 is expressed in granule cells in the cerebellum of the brain. Its associated protein is involved in transmitting signals from the granule cells to the Purkinje cells. Both these cells help relay messages in and out of the brain.

Researchers have already found a decreased number of both granule and Purkinje cells in the brains of people with autism.

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