Brain Sciences

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Special Issue Editor

Dr. Roberto Canitano

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Guest Editor

Department of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy
Interests: autism spectrum disorders; rett syndrome; experimental treatments; childhood and adolescence

Special Issue Information

Dear Colleagues,

Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders characterized by poor social interaction and communication, limited interest, and repetitive behavior. Many synaptic protein genes are associated with the etiology of ASD, making them a typical synaptic disorder.

In recent years, the term autism spectrum disorder (ASD) has gained general acceptance to describe a set of multifactorial neurodevelopmental disorders, grouping disorders including autistic disorder, Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), and child disintegrative disorder under the umbrella ASD.

Numerous ASD candidate genes implicated in many aspects of basic cell function such as chromatin remodeling, metabolism, and mRNA translation may impact neuronal processes ranging from neurogenesis to neuron migration, axon guidance, dendrite outgrowth, and synaptic formation and function. Synapses are highly specialized, asymmetrical cell–cell connections that are the basic unit of communication in the brain. ASD is diagnosed at an early stage of life, usually before three years of age, a period when intense synaptogenesis is happening. Several studies have found mutations in genes such as synaptic transmission and plasticity, and the etiology of ASD may be at least partially due to synaptic dysfunction, which can lead to dysfunction and cognitive impairment. Some environmental risk factors in ASD can also cause synaptic defects.

In this Special Issue, we will publish articles and research related to key genes and signaling pathways involved in the underlying synaptic abnormalities of ASD and discuss the study of molecules, cells, and functions of experimental ASD models.

Dr. Roberto Canitano
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

autism
synaptopathies
synaptic vesicles
synaptic transmission
social behavior
human mutations

Published Papers (1 paper)

Research

0 pages, 6370 KiB

Open AccessArticle

Alterations of Purinergic Receptors Levels and Their Involvement in the Glial Cell Morphology in a Pre-Clinical Model of Autism Spectrum Disorders

by Lidia Babiec, Anna Wilkaniec, Marta Matuszewska, Ewelina Pałasz, Magdalena Cieślik and Agata Adamczyk

Brain Sci. 2023, 13(7), 1088; https://doi.org/10.3390/brainsci13071088 - 18 Jul 2023

Cited by 3 | Viewed by 1379 | Correction

Abstract

Recent data suggest that defects in purinergic signalling are a common denominator of autism spectrum disorders (ASDs), though nothing is known about whether the disorder-related imbalance occurs at the receptor level. In this study, we investigated whether prenatal exposure to valproic acid (VPA) induces changes in purinergic receptor expression in adolescence and whether it corresponds to glial cell activation. Pregnant dams were subjected to an intraperitoneal injection of VPA at embryonic day 12.5. In the hippocampi of adolescent male VPA offspring, we observed an increase in the level of P2X1, with concomitant decreases in P2X7 and P2Y1 receptors. In contrast, in the cortex, the level of P2X1 was significantly reduced. Also, significant increases in cortical P2Y1 and P2Y12 receptors were detected. Additionally, we observed profound alterations in microglial cell numbers and morphology in the cortex of VPA animals, leading to the elevation of pro-inflammatory cytokine expression. The changes in glial cells were partially reduced via a single administration of a non-selective P2 receptor antagonist. These studies show the involvement of purinergic signalling imbalance in the modulation of brain inflammatory response induced via prenatal VPA exposure and may indicate that purinergic receptors are a novel target for pharmacological intervention in ASDs. Full article

(This article belongs to the Special Issue Modulation of Synaptic Transmission in Autism Spectrum Disorder)

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