SchaferAutismReport: Scientists Identify Defect In Brain Cell Channel That May Cause Autism-Like Syndrome

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RESEARCHScientists Identify Defect In Brain Cell Channel That May Cause Autism-Like SyndromeRepresentative iPSC-derived neurons from syndrome patient (bottom) shows increased numbers of neurons that produce the chemical messengers norepinephrine and dopamine, compared to those from a control subject (top). Credit: Dolmetsch, Ph.D., Stanford University eurekalert.org Neuroscientists at Stanford University School of Medicine have homed in on potential differences in autistic people's brain cells by studying brainlike spheres grown in an elaborate process from skin cells. The scientists studied cells from patients with syndrome, a rare genetic condition that is associated with one of the most penetrant forms of autism: In other words, most people with the syndrome mutation have autism as a symptom, among other problems. Autism is a spectrum of developmental disorders of impaired social and verbal interaction. Currently, no medication exists to treat its

underlying causes, according to the U.S. National Library of Medicine. Understanding what goes awry in autistic brain development could improve prospects for treating the condition. In this study, the scientists suggest that the autism in 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 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. Postdoctoral scholar Sergiu Pasca, MD, and Dolmetsch, PhD, associate professor of neurobiology, led the study, which will be published online Nov. 27 in Nature Medicine. Dolmetsch, a biophysicist, redirected his research to study autism after his son was diagnosed with syndrome. It's unclear what leads to autism, but its incidence is increasing, he said. The gaps in our understanding of the causes of psychiatric disorders such as autism have made them difficult to treat. Perhaps the biggest obstacle 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. Dolmetsch and his

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RESEARCHScientists Identify Defect In Brain Cell Channel That May Cause Autism-Like SyndromeBoys With Regressive Autism, But Not Early Onset Autism, Have Larger BrainsTREATMENTNJ Reviewing Controversial Autism TherapyFew Psychotropic Drugs Have Established Evidence in AutismEDUCATIONNew Anti-Bullying Trend: Teaching Victims To Fight BackPUBLIC HEALTHMore Kids Skip School Shots In 8 StatesPEOPLESouth Carolina Teen Missing Since Nov. 17 Mom of 3 Kids Killed in Ariz. Air Crash Drawing Support

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