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Last updated on April 21, 2014 at 8:43 EDT

New Autism Treatment Appears Promising

November 28, 2011

Neuroscientists have homed in on potential differences in the brain cells of autistic people by studying brainlike spheres grown in an elaborate process from skin cells.

The scientists from Stanford University School of Medicine studied cells from patients suffering from Timothy syndrome, a rare genetic condition that is associated with one of the most penetrant forms of autism.

Most people with the Timothy syndrome mutation have, among other health issues, autism as a symptom. Autism includes such problems as social development and communication.

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 how calcium flow is regulated is essential to allowing proper brain function.

The researchers developed a technique to generate neurons using only a sample of the patient´s skin, allowing them to examine their development in the laboratory, and even use them to test out possible treatments.

They found obvious differences between neurons grown from Timothy syndrome patients and those from healthy subjects. The healthy neurons developed into different subtypes, able to work in different regions of the brain.

In contrast, the proportion of neurons developing into each subtype was different in the Timothy syndrome samples – more were equipped to work in the upper part of the cerebral cortex, and fewer in the lower part.

Leading the study was Dr. Ricardo Dolmetsch, who said that the abnormalities found tallied with other evidence that autism was due in part to poor communication between different parts of the brain. His team managed to reduce significantly the number of these malfunctioning neurons by adding a drug as they developed.

If this research continues its positive results, it might be possible one day to treat this defect in a real patient, although currently, side effects made the drug used not currently suitable.

Cautiously optimistic, the National Autistic Society welcomes the findings, but warned that they did not necessarily portend a treatment for every type of autism.

“Timothy syndrome is only one form of autism and so these findings only give a very limited picture of what might cause the condition. More work would need to be done to substantiate this particular piece of research,” said researcher Georgina Gomez.

Results of the study were published online Nov. 27 in Nature Medicine.

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Source: RedOrbit Staff & Wire Reports