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Autism Risk Gene May Generate a Tangle of Wiring the Brain

A new study highlights the CNTNAP2 gene variant's role in autism, affecting brain connections essential for language learning.

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Autism researchers already knew that a variant of gene called CNTNAP2 that appears in about one-third of people is associated with higher risk for developing the condition. A study this week out in Science Translational Medicine puts that genetic marker together with what it appears to do in the brain: cause too many connections inside the frontal lobe of the brain, but too few from there to other brain regions. That could be a key clue in unraveling the learning and language difficulties that frequently appear in autism spectrum disorders.

The gene produces a protein called CASPR1 and is active during brain development — mostly during frontal-lobe development. "During early development, it is localized to parts of brain that are 'more evolved' — areas where learning and language happen, the frontal lobes where really complex thinking takes place," says Ashlee Scott-van Zeeland, a postdoctoral fellow at the Scripps Translational Science ...

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