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Abstract

Autism spectrum disorders are largely of genetic origin, and 5-10% of cases are currently known to be caused by a single gene mutation. Understanding the consequences of these mutations in detail can open the way for medical treatment. The study presented in this video focused on how a frequent mutation seen in patients with autism spectrum disorders causes the brain dysfunction that leads to the behavioral symptoms. Based on mice with the same genetic lesion that is known to cause autism spectrum disorder in human patients, mutant brains and nerve cells and the behavior of mutant mice were examined. The mice showed clear signs of autism related behavioral defects, and further analyses provided insights into the changes in brain function that are caused by the gene mutation, as NILS BROSE explains in this video. The corresponding data show that synapses of nerve cells that use the neurotransmitter GABA are particularly affected by the mutation. If these results can be confirmed to reflect the situation in the human body, there would be a chance to interfere with medication targeting GABAergic synapses.