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Sergiu Paşca, prim autor al unui studiu despre cauzele autismului, în Nature Medicine

Emerging research has advanced knowledge of autism by studying brainlike spheres grown in an elaborate process from skin cells.

Neuroscientists at Stanford University School of Medicine studied cells from patients with Timothy syndrome, a rare genetic condition that is associated with one of the most penetrant forms of autism: In other words, most people with the Timothy syndrome mutation have autism as a symptom, among other problems.

Autism is a spectrum of developmental disorders of impaired social and verbal interaction. Unfortunately, medical science has not developed a method to treat the underlying causes of autism. Consequently, understanding what goes awry in autistic brain development is an area of considerable investigation.

In the current study, scientists hypothesize that the autism in Timothy syndrome patients is caused by a gene mutation that interferes with the communication of nerve cells.

Specifically, scientists believe the gene mutation 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.

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.

Sergiu Pasca, M.D., and Ricardo Dolmetsch, Ph.D., led the study, which is published online in Nature Medicine.

According to researchers, the gaps in our understanding of the causes of psychiatric disorders such as autism have made them difficult to treat. Naturally, research on autism and other psychiatric and neurological diseases is limited by the inability to sample and experiment on living brain tissues.