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Special Issue "Molecular Genetics of Autism and Intellectual Disability"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 31 October 2021.

Special Issue Editor

Dr. Hyung-Goo Kim
E-Mail
Guest Editor
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar
Interests: autism; intellectual disability; human molecular genetics; whole exome sequencing

Special Issue Information

Dear Colleagues,

The recent technological advances in high-throughput whole exome/genome sequencing, single cell sequencing, and array comparative genomic hybridization (CGH) have led to the discovery of novel microdeletion and microduplication syndromes and variants of unknown significance (VUS) in trio and consanguineous family studies.

Furthermore, whole exome sequencing of balanced chromosomal translocations and inversions will identify a large number of novel candidate genes at the breakpoints of carriers affected with these two disorders.

Although more than 654 autosomal dominant genes in intellectual disability or autism have been reported, including 310 candidate genes, the majority of disease genes are still waiting to be discovered.

This Special Issue welcomes insightful reviews and primary research articles that will cover these exciting topics and will provide a valuable update to the current knowledge of the genetic architecture of intellectual disability and autism to unravel the molecular underpinnings of cognitive dysfunction. 

Dr. Hyung Kim
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 papers will be 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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
  • intellectual disability
  • whole exome sequencing
  • whole genome sequencing
  • microdeletion
  • microduplication
  • balanced translocation
  • balanced inversion
  • variant of unknown significance
  • candidate disease gene

Published Papers (1 paper)

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Research

Open AccessArticle
Perinatal Exposure to Diesel Exhaust-Origin Secondary Organic Aerosol Induces Autism-Like Behavior in Rats
Int. J. Mol. Sci. 2021, 22(2), 538; https://doi.org/10.3390/ijms22020538 - 07 Jan 2021
Viewed by 415
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social communication, poor social interactions, and repetitive behaviors. We aimed to examine autism-like behaviors and related gene expressions in rats exposed to diesel exhaust (DE)-origin secondary organic aerosol (DE-SOA) perinatally. Sprague–Dawley pregnant [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social communication, poor social interactions, and repetitive behaviors. We aimed to examine autism-like behaviors and related gene expressions in rats exposed to diesel exhaust (DE)-origin secondary organic aerosol (DE-SOA) perinatally. Sprague–Dawley pregnant rats were exposed to clean air (control), DE, and DE-SOA in the exposure chamber from gestational day 14 to postnatal day 21. Behavioral phenotypes of ASD were investigated in 10~13-week-old offspring using a three-chambered social behavior test, social dominance tube test, and marble burying test. Prefrontal cortex was collected to examine molecular analyses including neurological and immunological markers and glutamate concentration, using RT-PCR and ELISA methods. DE-SOA-exposed male and female rats showed poor sociability and social novelty preference, socially dominant behavior, and increased repetitive behavior. Serotonin receptor (5-HT(5B)) and brain-derived neurotrophic factor (BDNF) mRNAs were downregulated whereas interleukin 1 β (IL-β) and heme oxygenase 1 (HO-1) mRNAs were upregulated in the prefrontal cortex of male and female rats exposed to DE-SOA. Glutamate concentration was also increased significantly in DE-SOA-exposed male and female rats. Our results indicate that perinatal exposure to DE-SOA may induce autism-like behavior by modulating molecules such as neurological and immunological markers in rats. Full article
(This article belongs to the Special Issue Molecular Genetics of Autism and Intellectual Disability)
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