Medical Research Council - London Institute of Medical Sciences

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Modelling Autism
22 November 2014

Modelling Autism

Autism impairs people’s ability to communicate with and relate to others. It’s a diverse condition, and its genetic causes have been difficult to pin down. Now, researchers are tackling the problem on a patient-by-patient basis. They reprogrammed cells from an autistic boy into induced pluripotent stem cells, then coaxed them to become neurons. Under a microscope, the neurons (pictured, green) had fewer branches and fired less than healthy controls. Suspecting a mutation in a gene called TRPC6, scientists treated the cells with a drug that boosts TRPC6 activity. As a result, the neurons fired like normal, suggesting that this mutation – which had not been linked to autism before – contributes to the boy’s condition. There are probably more mutations involved, but the study shows how stem cells might help identify categories of autism with different causes. In the long run, the approach could help diagnose and find treatments for individual patients.

Written by Daniel Cossins

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