Scientists at the University of Basel identified a specific gene, neuroligin-3 which when absent in mice, interferes with neuronal signal transmission which leads to the development of behavior patterns typically found in autism. These adverse effects are associated with the increased production of a specific neuronal glutamate receptor which modulates the transmission of signals between neurons. Too much of this receptor prevents the adaptation of synaptic transmission during learning processes and disrupts the long term development and function of the brain. The scientists were also able to reverse these neuronal changes.
When they reactivated the production of neuroligin-3, the nerve cells scaled down the production of the glutamate receptors to a normal level and the structural defects in the brain typical for autism disappeared. These findings are an important step in drug development for the treatment for autism.
Baudouin SJ, Gaudias J, Gerharz S, Hatstatt L, Zhou K, Punnakkal P, Tanaka KF, Spooren W, Hen R, De Zeeuw CI, Vogt K, & Scheiffele P (2012). Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism. Science (New York, N.Y.), 338 (6103), 128-32 PMID: 22983708