Show Details

Down Syndrome Protein

April 2, 2013

Deficiency in a key protein may strongly contribute to cognitive impairments in Down Syndrome.



A major culprit in Down Sydrome.  I’m Bob Hirshon and this is Science Update.

The lack of a single protein may drive the mental impairments seen in Down Syndrome.  This according to scientists at the Sanford-Burnham Medical Research Institute.  The protein’s called SNX27, and it helps maintain receptors that brain cells use to communicate.  As neuroscientist Huaxi Xu and his colleagues discovered, mice that simply lack this protein have Down Syndrome-like mental impairments, and restoring the protein’s production largely reversed them.  The researchers also showed that after treatment with the protein, the mice developed more neural receptors. The linchpin to all of this is that in humans, genes that limit this protein’s production are found on chromosome 21 – an extra copy of which causes Down Syndrome.   So it’s possible that in the future, directly boosting levels of this protein could counteract the extra chromosome’s tendency to suppress it. I’m Bob Hirshon for AAAS, the Science Society.