People with autism suffer from a pervasive developmental disorder of the brain that becomes evident in early childhood.

A specific dysfunction in neuronal circuits has been identified, by Professors Peter Scheiffele and Kaspar Vogt at the Biozentrum of the University of Basel, that results from autism.

The researchers also discovered a way to reverse these neuronal changes. They believe that their findings, published in the journal Science, will have a great effect in drug development for treating autism.

Current estimates have revealed that about 1% of all kids develop an autistic spectrum disorder.

Autism is a hereditary developmental disorder of the brain, where people may experience fixed behavioral traits, disabled social functioning,and restricted speech development.

There are several mutations in over 300 genes identified as a central risk factor for the development of autism. One example is the gene neuroligin-3, which has a role in the formation of synapses- a structure that permits a neuron to pass an electrical or chemical signal to another cell.

Animal studies can be conducted to identify the effects of neuroligin-3 loss. For example, behavioral patterns that reflect important characteristics observed in autism were recognized in mice who did not have the gene for neuroligin-3.

Roche and a team of researchers from the Biozentrum at the University of Basel have detected a fault in the way signals are transmitted through the synapses that change the plasticity and function of the neuronal circuits.

These negative outcomes are associated with an increased output of a particular neuronal glutamate receptor- in charge of regulating the signal transmission between neurons. The brain’s function and development is disrupted over time by an excess of these receptors, which inhibits the adaptation of the synaptic signal transmission during the learning process.

Most importantly, the scientists have discovered that the impaired development of the neuronal circuit in the brain can be reversed.

When the production of neuroligin-3 in the mice was reactivated, the nerve cells reduced the production of the glutamate receptors to a normal level and the structural defects in the brain typical for autism were gone. Consequently, these glutamate receptors could be targeted in the development of drugs that could stop autism from developing or even reverse it.

At present, there is no cure for autism, but the symptoms can be reduced by engaging in behavioral therapy and other treatment.

Fortunately, a new way of treating the disorder has been uncovered through these findings.

In a particular European Union supported project, EU-AIMS, and the research groups from the Biozentrum are working with Roche to figure out how to use glutamate receptor antagonists for the treatment of autism. Researchers hope that in the near future, both adults and children with autism can be successfully treated.

Written by Sarah Glynn