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The Various Molecular Mechanisms Underlying Autism Spectrum Disorders
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The Various Molecular Mechanisms Underlying Autism Spectrum Disorders

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 (31 October 2021) | Viewed by 6896

Special Issue Information

Dear Colleagues,

Autism is a developmental disorder of the central nervous system. Cases are diagnosed on the basis of psychological/behavioral tests and the myriad of different characteristics has led to the term autism spectrum disorder or ASD. From pure autistic cases to pure Asperger cases, there are a gradation of symptoms and behavioral cognition deficits. Considering that genetic causes may be searched for, autism may, overall, be considered idiopathic. To date, the expectations due from exome sequencing have not been met, i.e., no succesful therapy is yet based on results from nucleic acid sequencing. Remarkably, blood or urine tests are rarely used to complement clinical information or to refine diagnosis. This is puzzling as almost any other disease relies on biochemical parameters for  diagnosis establishment or confirmation (with exceptions mainly affecting the elderly: Parkinson’s, Alzheimer’s, etc.). Therefore, this Special Issue aims at promoting a debate on various levels; i) exome versus introme, ii) genome versus epigenome and, last but not least, iii) the convenience or not of determining biochemical parameters in body fluids (urine, sweat, saliva and/or blood) for the diagnosis and therapy of ASD and for stratification of ASD cases.

Dr. Rafael Franco
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. 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.


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. 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

  • exome
  • genome and epigenome
  • Idiopathic diseases
  • Brain energy metabolism
  • Blood biomarkers
  • Mitochondria

Published Papers (2 papers)

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Research

20 pages, 862 KiB  
Communication
Utilizing Genomically Targeted Molecular Data to Improve Patient-Specific Outcomes in Autism Spectrum Disorder
by Sharon Hausman-Cohen, William LaValley, Heather Way, Emily Gutierrez and Jordan Reeder
Int. J. Mol. Sci. 2022, 23(4), 2167; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23042167 - 16 Feb 2022
Cited by 1 | Viewed by 3885
Abstract
Molecular biology combined with genomics can be a powerful tool for developing potential intervention strategies for improving outcomes in children with autism spectrum disorders (ASD). Monogenic etiologies rarely cause autism. Instead, ASD is more frequently due to many polygenic contributing factors interacting with [...] Read more.
Molecular biology combined with genomics can be a powerful tool for developing potential intervention strategies for improving outcomes in children with autism spectrum disorders (ASD). Monogenic etiologies rarely cause autism. Instead, ASD is more frequently due to many polygenic contributing factors interacting with each other, combined with the epigenetic effects of diet, lifestyle, and environment. One limitation of genomics has been identifying ways of responding to each identified gene variant to translate the information to something clinically useful. This paper will illustrate how understanding the function of a gene and the effects of a reported variant on a molecular level can be used to develop actionable and targeted potential interventions for a gene variant or combinations of variants. For illustrative purposes, this communication highlights a specific genomic variant, SHANK3. The steps involved in developing molecularly genomically targeted actionable interventions will be demonstrated. Cases will be shared to support the efficacy of this strategy and to show how clinicians utilized these targeted interventions to improve ASD-related symptoms significantly. The presented approach demonstrates the utility of genomics as a part of clinical decision-making. Full article
(This article belongs to the Special Issue The Various Molecular Mechanisms Underlying Autism Spectrum Disorders)
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22 pages, 9643 KiB  
Article
Synaptic Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders
by Grzegorz A. Czapski, Lidia Babiec, Henryk Jęśko, Magdalena Gąssowska-Dobrowolska, Magdalena Cieślik, Marta Matuszewska, Małgorzata Frontczak-Baniewicz, Karolina Zajdel and Agata Adamczyk
Int. J. Mol. Sci. 2021, 22(18), 10058; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221810058 - 17 Sep 2021
Cited by 8 | Viewed by 2420
Abstract
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease with serious neurological and mental symptoms, including autism. Mutations in the TSC1/TSC2 genes lead to the overactivation of mTOR signalling, which is also linked to nonsyndromic autism. Our aim was to [...] Read more.
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease with serious neurological and mental symptoms, including autism. Mutations in the TSC1/TSC2 genes lead to the overactivation of mTOR signalling, which is also linked to nonsyndromic autism. Our aim was to analyse synaptic pathology in a transgenic model of TSC: two-month-old male B6;129S4-Tsc2tm1Djk/J mice with Tsc2 haploinsufficiency. Significant brain-region-dependent alterations in the expression of several synaptic proteins were identified. The most prominent changes were observed in the immunoreactivity of presynaptic VAMP1/2 (ca. 50% increase) and phospho-synapsin-1 (Ser62/67) (ca. 80% increase). Transmission electron microscopy demonstrated serious ultrastructural abnormalities in synapses such as a blurred structure of synaptic density and a significantly increased number of synaptic vesicles. The impairment of synaptic mitochondrial ultrastructure was represented by excessive elongation, swelling, and blurred crista contours. Polyribosomes in the cytoplasm and swollen Golgi apparatus suggest possible impairment of protein metabolism. Moreover, the delamination of myelin and the presence of vacuolar structures in the cell nucleus were observed. We also report that Tsc2+/− mice displayed increased brain weights and sizes. The behavioural analysis demonstrated the impairment of memory function, as established in the novel object recognition test. To summarise, our data indicate serious synaptic impairment in the brains of male Tsc2+/− mice. Full article
(This article belongs to the Special Issue The Various Molecular Mechanisms Underlying Autism Spectrum Disorders)
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