Autism as a synaptopathy: behavioral studies in genetic mouse models

• Autorzy: Wohr M.
• Języki publikacji: EN

Abstrakty

EN

Autism is a neurodevelopmental disorder characterized by abnormal reciprocal social interactions, communication deficits, and repetitive, stereotyped patterns of behaviors. While the causes of autism remain unknown, the high concordance between monozygotic twins supports a strong genetic component. Genome-wide and pathway-based association studies led to the identification of several susceptibility genes for autism, many of which code for proteins involved in synapse formation and function, including the NLGN and SHANK genes families. NLGN genes code for postsynaptic cell adhesion molecules, Neuroligins, that bridge the synaptic cleft by forming heterophilic complexes with their presynaptic binding partners, Neurexins. SHANK genes code for scaffolding proteins located in the postsynaptic density of excitatory synapses. To test the hypothesis that mutations in NLGN and SHANK gene family members contribute to the symptoms of autism, we evaluated various mutant models for behavioral phenotypes with relevance to autism, focusing on social communication, namely ultrasonic vocalizations and the deposition of scent marks, which appear to be two major modes of mouse communication. Results indicate that mice lacking Neuroligin or Shank family members display an autism-like behavioral phenotype, including social communication deficits. Often, these deficits are paralleled by cognitive dysfunctions, such as impaired object recognition. Our studies support the notion that autism is a synaptopathy.

• Wydawca: -
• Czasopismo: Acta Neurobiologiae Experimentalis
• Rocznik: 2013
• Tom: 73
• Numer: Suppl.1
• Opis fizyczny: p.20

Twórcy

autor

Wohr M.

• Behavioral Neuroscience, Philipps-University of Marburg, Marburg, Germany