Creating stem cells to study autism

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: Single source: Stem cells derived from the skin can form nerve cells and be used to study autism.

A team of scientists is reprogramming adult stem cells generated from tiny skin samples of people with autism to form nerve cells, creating a powerful research tool for the disorder.

Exposed to the correct transcription proteins, skin cells can transform into pluripotent stem cells ― which, in turn, can be prompted to differentiate into any kind of cell in the body, including neurons.

Working with the nerve cells may help scientists study various aspects of the disorder, including potential imbalances in excitatory and inhibitory signaling, defects in synapse formation or any problems with cell division.

“We’re starting with the idea that there are a limited set of cellular processes that are altered in kids with autism,” says lead investigator Ricardo Dolmetsch, an assistant professor of molecular pharmacology at Stanford University. “All of that we can study in a dish.”

Using stem cells has tremendous advantage over other approaches, such as studying dead tissue taken from postmortem brains or manipulating mouse models of rare genetic forms of the complex disorder. “I think it has huge promise, not only for being able to develop drugs, but also just being able to understand disease,” he says.

His lab has already begun to explore treatments for Timothy syndrome, a rare and severe genetic developmental disorder that is often accompanied by symptoms of autism.

Compared with wildtype (bottom), calcium channels with the Timothy syndrome mutation (top) severely disrupt the dendrites necessary for migration of the cells from the ventricular zone, where they are born, to the cortex.

Timothy syndrome is caused by mutations in the gene, CACNA1C. In research he presented Sunday at the Society for Neuroscience conference, Dolmetsch found that these mutations lead to fewer neuronal synapses and a retraction of dendrites ― the long fibers that receive nerve signals.

The abnormalities can be partially reversed with treatment by a known drug, Y27, which is approved by the US Food and Drug Administration to treat cancer, Dolmetsch says.

He has thus far harvested skin cells from 10 individuals with autism and their family members, and is actively recruiting more. One sample is his own, and one sample from his son, who has been diagnosed with autism.

For all reports from the Society for Neuroscience conference, click here.