Missing protein may underlie autism: U.S. study (REUTERS)

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Missing protein may underlie autism: U.S. study

CHICAGO (Reuters) - Autism and other brain disorders may be the result of a missing protein important for building communication networks in the brain, U.S. researchers said on Wednesday.

Researchers at the Massachusetts Institute of Technology found that an enzyme called Cdk5 that instructs a synapse-building protein called CASK may be going awry, causing a breakdown in the formation of synapses.

Synapses allow information from one neuron to pass to another and are essential for the ability to learn and remember.

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Very interesting stuff, and it would certainly seem that this is highly compatible with being caused by a genetic issue, which is the generally accepted reason for autism. I wonder how you test it in humans, though? It sounds like this is a mere hypothesis right now, and removing the protein from mice affects synapse formation. So do you look for a lack of the protein in humans in.. what, blood samples?
Still, very interesting stuff.