Genetic aspects of autism spectrum disorders: insights from animal models
Open Access
- 1 January 2014
- journal article
- review article
- Published by Frontiers Media SA in Frontiers in Cellular Neuroscience
- Vol. 8, 58
- https://doi.org/10.3389/fncel.2014.00058
Abstract
Autism spectrum disorders (ASD) are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute towards the formation, stabilization and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD.This publication has 101 references indexed in Scilit:
- (12) A single mutation near the C-terminus in (/(-fold protein family causes a defect in protein processingChemico-Biological Interactions, 2005
- EEG evidence for mirror neuron dysfunction in autism spectrum disordersCognitive Brain Research, 2005
- Epigenetics in human disease and prospects for epigenetic therapyNature, 2004
- Disorder-associated mutations lead to functional inactivation of neuroliginsHuman Molecular Genetics, 2004
- Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorderMolecular Psychiatry, 2004
- Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1The Journal of cell biology, 2003
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003
- Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism FamiliesGenomics, 2001
- Neurofascin induces neurites by heterophilic interactions with axonal NrCAM while NrCAM requires F11 on the axonal surface to extend neurites.The Journal of cell biology, 1996
- Binding between the neural cell adhesion molecules axonin-1 and Nr-CAM/Bravo is involved in neuron-glia interaction.The Journal of cell biology, 1995