New Study on Rare Condition Could Give Clues to Autism Causes

Researchers believe a rare syndrome could be linked to autism.

The condition called Timothy syndrome, although only though to exist in 20 cases worldwide, is thought to cause autistic behavior.

This is of interest to scientists as it is a genetic condition and can be pinpointed down to a single gene defect which may give clues about the origins of autism.

One study into Timothy syndrome conducted by Neuroscientists at Stanford University School of Medicine looked at the way the nerve cells of those with Timothy syndrome developed differently from those without the syndrome.

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 allows them to work, and the way that the calcium flow is regulated is a pivotal factor in how our brains function.

It is unclear to what extent the results represent what happens in most autism spectrum disorders which are not caused by Timothy syndrome.

The gaps in our understanding of the causes of psychiatric disorders such as autism have made them hard to treat. 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. The Stanford scientists figured out a solution to this problem, using a novel approach involving what are known as induced pluripotent stem cells, or iPS cells.

“We developed a way of taking skin cells from humans with Timothy syndrome and converting them into stem cells, then converting those stem cells into neurons,” said Ricardo Dolmetsch, PhD, associate professor of neurobiology, who led the study.

Further research will be needed to tell if this rare condition can provide clues to the origins of autism.

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