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Neurodevelopmental Disorders: From Molecular and Cellular Mechanisms to Therapeutic Perspectives
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Neurodevelopmental Disorders: From Molecular and Cellular Mechanisms to Therapeutic Perspectives

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 (15 March 2024) | Viewed by 4638

Special Issue Editor

Dr. Kazuhito Toyooka

E-Mail Website
Guest Editor
Department of Neurobiology and Anatomy, Drexel University College of Medicine, 2900 Queen Lane, Philadelphia, PA 19129, USA
Interests: neurodevelopmental disorder; neurodevelopment; brain development; neurite formation; neuronal migration; spine formation; synapse formation; neural connectivity; electrophysiology; behavior; mouse genetics; autism spectrum disorder
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neuronal progenitor cells proliferate and divide in the developing brain and then exit the cell cycle. Post-mitotic neurons migrate to their final destination, followed by neuronal morphogenesis, such as neurite formation, spine formation, and synaptogenesis. They play a significant role in the formation and establishment of neural connectivity, which affects neural activity and behavior. These complex cellular events can be attributed to a variety of molecules. If any of these cellular events fail, it results in neurodevelopmental disorders, such as autism spectrum disorder (ASD) or attention deficit hyperactivity disorder (ADHD). Therefore, the elucidation of the underlying cellular and molecular mechanisms and identification of the molecules responsible are urgently required.

This Special Issue seeks original articles and review articles about molecules implicated in neurodevelopmental disorders. In addition to articles that address neurodevelopmental disorders, we are also interested in articles that address associated disorders, such as seizure and anxiety disorder. Additionally, we are interested in articles that describe how regulatory molecules function in cellular and molecular processes in normal brain development and behavior, which can provide insight into the causes of neurodevelopmental disorders.

Dr. Kazuhito Toyooka
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

  • neurodevelopmental disorder
  • neurogenesis
  • neuronal morphogenesis
  • neural connectivity
  • behavior
  • autism spectrum disorder
  • intellectual disability
  • communication/speech disorders
  • motor disorder
  • attention deficit hyperactivity disorder

Published Papers (3 papers)

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Research

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20 pages, 1975 KiB  
Article
Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments
by Rohan Alibutud, Sammy Hansali, Xiaolong Cao, Anbo Zhou, Vaidhyanathan Mahaganapathy, Marco Azaro, Christine Gwin, Sherri Wilson, Steven Buyske, Christopher W. Bartlett, Judy F. Flax, Linda M. Brzustowicz and Jinchuan Xing
Int. J. Mol. Sci. 2023, 24(17), 13248; https://doi.org/10.3390/ijms241713248 - 26 Aug 2023
Viewed by 1306
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restrictive interests and/or repetitive behaviors and deficits in social interaction and communication. ASD is a multifactorial disease with a complex polygenic genetic architecture. Its genetic contributing factors are not yet fully understood, especially [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by restrictive interests and/or repetitive behaviors and deficits in social interaction and communication. ASD is a multifactorial disease with a complex polygenic genetic architecture. Its genetic contributing factors are not yet fully understood, especially large structural variations (SVs). In this study, we aimed to assess the contribution of SVs, including copy number variants (CNVs), insertions, deletions, duplications, and mobile element insertions, to ASD and related language impairments in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Within the cohort, ~77% of the families contain SVs that followed expected segregation or de novo patterns and passed our filtering criteria. These SVs affected 344 brain-expressed genes and can potentially contribute to the genetic etiology of the disorders. Gene Ontology and protein–protein interaction network analysis suggested several clusters of genes in different functional categories, such as neuronal development and histone modification machinery. Genes and biological processes identified in this study contribute to the understanding of ASD and related neurodevelopment disorders. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Molecular and Cellular Mechanisms to Therapeutic Perspectives)
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15 pages, 15975 KiB  
Article
Supt16 Haploinsufficiency Impairs PI3K/AKT/mTOR/Autophagy Pathway in Human Pluripotent Stem Cells Derived Neural Stem Cells
by Junwen Wang, Ziyi Wang, Limeng Dai, Xintong Zhu, Xingying Guan, Junyi Wang, Jia Li, Mao Zhang, Yun Bai and Hong Guo
Int. J. Mol. Sci. 2023, 24(3), 3035; https://doi.org/10.3390/ijms24033035 - 03 Feb 2023
Cited by 1 | Viewed by 1890
Abstract
The maintenance of neural stem cells (NSCs) plays a critical role in neurodevelopment and has been implicated in neurodevelopmental disorders (NDDs). However, the underlying mechanisms linking defective human neural stem cell self-renewal to NDDs remain undetermined. Our previous study found that Supt16 haploinsufficiency [...] Read more.
The maintenance of neural stem cells (NSCs) plays a critical role in neurodevelopment and has been implicated in neurodevelopmental disorders (NDDs). However, the underlying mechanisms linking defective human neural stem cell self-renewal to NDDs remain undetermined. Our previous study found that Supt16 haploinsufficiency causes cognitive and social behavior deficits by disrupting the stemness maintenance of NSCs in mice. However, its effects and underlying mechanisms have not been elucidated in human neural stem cells (hNSCs). Here, we generated Supt16+/− induced pluripotent stem cells (iPSCs) and induced them into hNSCs. The results revealed that Supt16 heterozygous hNSCs exhibit impaired proliferation, cell cycle arrest, and increased apoptosis. As the RNA-seq analysis showed, Supt16 haploinsufficiency inhibited the PI3K/AKT/mTOR pathway, leading to rising autophagy, and further resulted in the dysregulated expression of multiple proteins related to cell proliferation and apoptotic process. Furthermore, the suppression of Supt16 heterozygous hNSC self-renewal caused by autophagy activation could be rescued by MHY1485 treatment or reproduced in rapamycin-treated hNSCs. Thus, our results showed that Supt16 was essential for hNSC self-renewal and its haploinsufficiency led to cell cycle arrest, impaired cell proliferation, and increased apoptosis of hNSCs by regulating the PI3K/AKT/mTOR/autophagy pathway. These provided a new insight to understand the causality between the Supt16 heterozygous NSCs and NDDs in humans. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Molecular and Cellular Mechanisms to Therapeutic Perspectives)
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Review

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35 pages, 869 KiB  
Review
Metabolomic Markers in Attention-Deficit/Hyperactivity Disorder (ADHD) among Children and Adolescents—A Systematic Review
by Elena Predescu, Tudor Vaidean, Andreea-Marlena Rapciuc and Roxana Sipos
Int. J. Mol. Sci. 2024, 25(8), 4385; https://doi.org/10.3390/ijms25084385 - 16 Apr 2024
Viewed by 608
Abstract
Attention-Deficit/Hyperactivity Disorder (ADHD), characterized by clinical diversity, poses diagnostic challenges often reliant on subjective assessments. Metabolomics presents an objective approach, seeking biomarkers for precise diagnosis and targeted interventions. This review synthesizes existing metabolomic insights into ADHD, aiming to reveal biological mechanisms and diagnostic [...] Read more.
Attention-Deficit/Hyperactivity Disorder (ADHD), characterized by clinical diversity, poses diagnostic challenges often reliant on subjective assessments. Metabolomics presents an objective approach, seeking biomarkers for precise diagnosis and targeted interventions. This review synthesizes existing metabolomic insights into ADHD, aiming to reveal biological mechanisms and diagnostic potentials. A thorough PubMed and Web of Knowledge search identified studies exploring blood/urine metabolites in ADHD-diagnosed or psychometrically assessed children and adolescents. Synthesis revealed intricate links between ADHD and altered amino acid metabolism, neurotransmitter dysregulation (especially dopamine and serotonin), oxidative stress, and the kynurenine pathway impacting neurotransmitter homeostasis. Sleep disturbance markers, notably in melatonin metabolism, and stress-induced kynurenine pathway activation emerged. Distinct metabolic signatures, notably in the kynurenine pathway, show promise as potential diagnostic markers. Despite limitations like participant heterogeneity, this review underscores the significance of integrated therapeutic approaches targeting amino acid metabolism, neurotransmitters, and stress pathways. While guiding future research, this overview of the metabolomic findings in ADHD suggests directions for precision diagnostics and personalized ADHD interventions. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Molecular and Cellular Mechanisms to Therapeutic Perspectives)
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