Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.
Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.
Department of Biological Sciences, Korea Advanced Institute of Science and Technology Daejeon, South Korea.
Hyejung
H
Won
Won
W
Mah
Eunjoon
E
Kim
animal model; autism spectrum disorder; genetics; synapse; synaptopathy; therapeutics