Study on Mutant Protein May Help Unlock Autism

And may end up helping autistic people recover their lives.

http://sfari.org/news-and-opinion/news/2014/mutant-protein-causes-reversible-autism-like-behaviors

Mice that begin expressing a mutant version of a protein called neurexin at 2 weeks of age develop autism-like behaviors that researchers can erase weeks or months later. The report, published 24 July in Cell Reports, suggests that it may be possible to treat autism symptoms even in adulthood1.

In particular, the animals’ social behavior, such as self-grooming and interaction with other mice, returned to normal. “I think this is good news for the autism field because it shows that reversion even in old animals can be possible,” says lead researcher Francisco G. Scholl, professor of medical physiology and biophysics at the University of Seville in Spain.

The neurexin family of proteins helps neurons send signals across a synapse — the point at which two neurons connect. From their position on one side of the synapse, they bind to another family of proteins called neuroligins on the other side to facilitate the release of chemical messengers2. Mutations in neurexins and other synaptic proteins have been linked to autism.

Several studies over the past few years have successfully reversed symptoms in mouse models of autism and related conditions such as Rett syndrome, tuberous sclerosis and fragile X syndrome. Last year, for example, researchers administered gene therapy to correct behavioral and other deficits in adult mice modeling Rett syndrome, and another study used a drug for sleeping sickness to reverse social and other deficits in a mouse model of severe autism.