Molecular and Cellular Mechanisms on Autism Spectrum Disorder
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 3068
Special Issue Editor
Special Issue Information
Dear Colleagues,
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social and communication abnormalities. Synaptic abnormalities have been observed in preclinical ASD models. They are thought to play a major role in ASD and might be modified by targeted interventions. An imbalance in excitatory to inhibitory neurotransmission (E/I imbalance), through altered glutamatergic and GABAergic neurotransmission, respectively, is thought to be implicated in the pathogenesis of ASD. Molecular abnormalities in synaptic structures and functions in ASD involve neuroligins and neurexins, proteins that are crucial for aligning and activating synapses along with the SHANK3 scaffolding protein. Multiple genes can contribute to the disruption of GABAergic interneuron development and therefore are involved in ASD. Mutations in GABAA receptor subunit genes have also been described. The genes coding for the three GABAA receptor subunits α5, β3, and γ3 (GABRA5, GABRB3, and GABRG3, respectively) are located on the 15q11chromosome, and single-nucleotide polymorphisms (SNPs) in these genes have been associated with ASD. Neurexins (NRXNs) are presynaptic proteins that bind their postsynaptic counterparts, the neuroligins (NLGNs). NRXN–NLGN signaling is consistently involved in postsynaptic differentiation, and it controls the balance of inhibitory GABAergic and excitatory glutamatergic signaling. Mutations and chromosomal rearrangements in NRXN have been associated with ASD. Mutations in NLGN1, -3, and -4X genes have been identified in ASD as well. The aim of this topic is to contribute to disentangling the complex synaptic and molecular abnormalities of ASD and related new experimental treatments.
Dr. Roberto Canitano
Guest Editor
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Keywords
- autism spectrum disorders
- synaptic abnormalities
- glutamatergic and GABA-targeted treatments
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