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Study shows gene mutation in brain cell channel may cause autism-like syndrome

Perhaps one of the biggest obstacles to research into autism and other psychiatric and neurological diseases is that scientists can't get living brain cell samples from people with these conditions, for obvious reasons. Now neuroscientists at Stanford have figured out a solution to this dilemma, using a novel approach involving what are known as induced pluripotent stem cells, or iPS cells.

The new method involved taking skin cells from patients with Timothy syndrome (a rare genetic condition that includes autism as a symptom), converting the skin cells into stem cells and then converting those stem cells into neurons. By studying clumps of these neurons, the neuroscientists homed in on potential differences in autistic people's brain cells. As described in a School of Medicine release:

In this study, the scientists suggest that the autism in Timothy syndrome patients is caused by a gene mutation that makes calcium channels in neuron membranes defective, interfering with how those neurons communicate and develop. The flow of calcium into neurons enables them to fire, and the way that the calcium flow is regulated is a pivotal factor in how our brains function.

The researchers also found brain cells grown from individuals with Timothy syndrome resulted in fewer of the kind of cells that connect both halves of the brain, as well as an overproduction of two of the brain's chemical messengers, dopamine and norepinephrine. Furthermore, they found they could reverse these effects by chemically blocking the faulty channels.

The findings (subscription required) appear online in Nature Medicine. Researchers say the new technique to recreate how the neurons of individuals with Timothy syndrome develop in a lab setting could prove to be a powerful research tool by allowing scientists to study the disorder in human cells rather than mouse cells.

Previously: Stanford Magazine spotlights scientists' efforts to untangle the root causes of autism, Joachim Hallmayer discusses new Autism Genome Project study, How better understanding Williams syndrome could advance autism research and Research on autism is moving in the right direction

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