People with autism suffer from a pervasive developmental disorder of the brain that becomes evident in early childhood. Peter Scheiffele and Kaspar Vogt, Professors at the Biozentrum of the University of Basel, have identified a specific dysfunction in neuronal circuits that is caused by autism. In the respected journal "Science", the scientists also report about their success in reversing these neuronal changes. These findings are an important step in drug development for the treatment for autism.
According to current estimates, about one percent of all children develop an autistic spectrum disorder. Individuals with autism may exhibit impaired social behavior, rigid patterns of behavior and limited speech development. Autism is a hereditary developmental disorder of the brain. A central risk factor for the development of autism are numerous mutations in over 300 genes that have been identified, including the gene neuroligin-3, which is involved in the formation of synapses, the contact junction between nerve cells.
Loss of neuroligin-3 interferes with neuronal signal transmission
The consequences of neuroligin-3 loss can be studied in animal models. Mice lacking the gene for neuroligin-3 develop behavioral patterns reflecting important aspects observed in autism. In collaboration with Roche the research groups from the Biozentrum at the University of Basel have now identified a defect in synaptic signal transmission that interferes with the function and plasticity of the neuronal circuits. These negative effects are associated with increased production of a specific neuronal glutamate receptor, which modulates the signal transmission between neurons. An excess of these receptors inhibits the adaptation of the synaptic signal transmission during the learning process, thus disrupting the development and function of the brain in the long term.