The Molecular Genetics of Autism Spectrum Disorders

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Molecular and Cellular Neuroscience".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 2758

Special Issue Editors

National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy
Interests: neuroscience; autism spectrum disorders; genomics; metagenomics; proteomics
National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy
Interests: molecular biology; autism spectrum disorders; genomics

Special Issue Information

Dear Colleagues,

Autism spectrum disorders are a heterogenous set of neurodevelopmental conditions characterized by persistent difficulties with social skills, speech and non-verbal communication, as well as repetitive behaviours. The prevalence of these conditions is increasing, affecting 1 in 44 children in the US. The aetiology of autism has complex genetic and environmental origins. Hundreds of genes associated with autism, and multigene interactions and rare mutations greatly contribute to this condition. In the same way, epigenetic changes are also involved in autism onset.

This Special Issue of Brain Sciences presents a collection of studies detailing the most recent advancements in the field of molecular genetics of autism spectrum disorders. authors are invited to submit original articles and reviews that address genetics, epigenetics and transcriptomics in autism spectrum disorders. These articles will help to disentangle the molecular complexity of this condition, highlighting possible genotype–phenotype relations and therapeutic targets for personalized medicine.

Dr. Francesca A. Cupaioli
Dr. Alessandra Mezzelani
Guest Editors

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 spectrum disorders
  • neurodevelopment
  • neurogenetics
  • genetics
  • epigenetics
  • transcriptomics
  • animal models
  • in vitro models
  • human study
  • case report

Published Papers (3 papers)

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Editorial

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2 pages, 179 KiB  
Editorial
Progress in the Puzzle Resolution: The Molecular Genetics Underpinning Autism Spectrum Disorders
by Alessandra Mezzelani and Francesca Anna Cupaioli
Brain Sci. 2023, 13(12), 1688; https://doi.org/10.3390/brainsci13121688 - 07 Dec 2023
Viewed by 631
Abstract
Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by impairments in social interaction, communication, and the presence of restricted, repetitive behaviors [...] Full article
(This article belongs to the Special Issue The Molecular Genetics of Autism Spectrum Disorders)

Research

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16 pages, 547 KiB  
Article
The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder
by Agata Kucińska, Wanda Hawuła, Lena Rutkowska, Urszula Wysocka, Łukasz Kępczyński, Małgorzata Piotrowicz, Tatiana Chilarska, Nina Wieczorek-Cichecka, Katarzyna Połatyńska, Łukasz Przysło and Agnieszka Gach
Brain Sci. 2024, 14(3), 273; https://doi.org/10.3390/brainsci14030273 - 13 Mar 2024
Viewed by 454
Abstract
Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous, with many genes involved, a crucial role is believed to [...] Read more.
Autism spectrum disorders (ASDs) encompass a broad group of neurodevelopmental disorders with varied clinical symptoms, all being characterized by deficits in social communication and repetitive behavior. Although the etiology of ASD is heterogeneous, with many genes involved, a crucial role is believed to be played by copy number variants (CNVs). The present study examines the role of copy number variation in the development of isolated ASD, or ASD with additional clinical features, among a group of 180 patients ranging in age from two years and four months to 17 years and nine months. Samples were taken and subjected to array-based comparative genomic hybridization (aCGH), the gold standard in detecting gains or losses in the genome, using a 4 × 180 CytoSure Autism Research Array, with a resolution of around 75 kb. The results indicated the presence of nine pathogenic and six likely pathogenic imbalances, and 20 variants of uncertain significance (VUSs) among the group. Relevant variants were more prevalent in patients with ASD and additional clinical features. Twelve of the detected variants, four of which were probably pathogenic, would not have been identified using the routine 8 × 60 k microarray. These results confirm the value of microarrays in ASD diagnostics and highlight the need for dedicated tools. Full article
(This article belongs to the Special Issue The Molecular Genetics of Autism Spectrum Disorders)
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Article
Aflatoxin B1 Exposure Aggravates Neurobehavioral Deficits and Immune Dysfunctions of Th1, Th9, Th17, Th22, and T Regulatory Cell-Related Transcription Factor Signaling in the BTBR T+Itpr3tf/J Mouse Model of Autism
by Mohammad Y. Alwetaid, Taghreed N. Almanaa, Saleh A. Bakheet, Mushtaq A. Ansari, Ahmed Nadeem, Sabry M. Attia, Marwa H. Hussein and Sheikh F. Ahmad
Brain Sci. 2023, 13(11), 1519; https://doi.org/10.3390/brainsci13111519 - 27 Oct 2023
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Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by impaired communication, reciprocal social interactions, restricted sociability deficits, and stereotyped behavioral patterns. Environmental factors and genetic susceptibility have been implicated in an increased risk of ASD. Aflatoxin B1 (AFB1) is [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disease characterized by impaired communication, reciprocal social interactions, restricted sociability deficits, and stereotyped behavioral patterns. Environmental factors and genetic susceptibility have been implicated in an increased risk of ASD. Aflatoxin B1 (AFB1) is a typical contaminant of food and feed that causes severe immune dysfunction in humans and animals. Nevertheless, the impact of ASD on behavioral and immunological responses has not been thoroughly examined. To investigate this phenomenon, we subjected BTBR T+Itpr3tf/J (BTBR) mice to AFB1 and evaluated their marble-burying and self-grooming behaviors and their sociability. The exposure to AFB1 resulted in a notable escalation in marble-burying and self-grooming activities while concurrently leading to a decline in social contacts. In addition, we investigated the potential molecular mechanisms that underlie the impact of AFB1 on the production of Th1 (IFN-γ, STAT1, and T-bet), Th9 (IL-9 and IRF4), Th17 (IL-17A, IL-21, RORγT, and STAT3), Th22 (IL-22, AhR, and TNF-α), and T regulatory (Treg) (IL-10, TGF-β1, and FoxP3) cells in the spleen. This was achieved using RT-PCR and Western blot analyses to assess mRNA and protein expression in brain tissue. The exposure to AFB1 resulted in a significant upregulation of various immune-related factors, including IFN-γ, STAT1, T-bet, IL-9, IRF4, IL-17A, IL-21, RORγ, STAT3, IL-22, AhR, and TNF-α in BTBR mice. Conversely, the production of IL-10, TGF-β1, and FoxP3 by CD4+ T cells was observed to be downregulated. Exposure to AFB1 demonstrated a notable rise in Th1/Th9/Th22/Th17 levels and a decrease in mRNA and protein expression of Treg. The results above underscore the significance of AFB1 exposure in intensifying neurobehavioral and immunological abnormalities in BTBR mice, hence indicating the necessity for a more comprehensive investigation into the contribution of AFB1 to the development of ASD. Full article
(This article belongs to the Special Issue The Molecular Genetics of Autism Spectrum Disorders)
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