Autism comprises a heterogeneous group of neurodevelopmental disorders characterized by defects in communication and social interaction. A group of nonsyndromic forms of autism is associated with mutations in the neuroligin genes, which encode postsynaptic adhesion molecules. Using a reversible knockout approach, Baudouin et al. investigated the in vivo functions of neuroligin-3 in the mouse cerebellum. Mutant mice showed a major defect in metabotropic glutamate receptor–dependent long-term potentiation, disrupted heterosynaptic competition, and ectopic synapse formation in vivo. These synaptic defects could be rescued by reactivation of the neuroligin gene in the adult.
S. J. Baudouin, J. Gaudias, S. Gerharz, L. Hatstatt, K. Zhou, P. Punnakkal, K. F. Tanaka, W. Spooren, R. Hen, C. I. De Zeeuw, K. Vogt, P. Scheiffele, Shared synaptic pathophysiology in syndromic and nonsyndromic rodent models of autism. Science 338, 128–132 (2012). [Abstract] [Full Text]