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Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives
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Neurodevelopmental Disorders: From Epigenetic Basis 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 (31 August 2023) | Viewed by 11351

Special Issue Editors

Dr. Miriam Zappella

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Guest Editor
Department of Psychology, Salesian University of Rome, 00139 Rome, Italy
Interests: stress; autism; developmental disorders; psychological therapy
Dr. Roberto Sacco

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Guest Editor
Research Unit of Medical Genetics, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21, 00128 Roma, Italy
Interests: neuropsychology; genetic epidemiology; autism; neurodevelopmental disorders
Dr. Alessandra Micera

E-Mail Website
Guest Editor
Research and Development Laboratory for Biochemical, Molecular and Cellular Applications in Ophthalmological Sciences, Research Laboratories in Ophthalmology, IRCCS-Fondazione Bietti, 00184 Rome, Italy
Interests: neuromediators; ocular diseases; biomarkers; epigenetics; genetic variants
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is focused on: Neurodevelopmental disorders: From epigenetic basis to therapeutic Perspectives.

Currently, relevant studies focused on neurodevelopmental disorders have been associated with epigenetic changes, including DNA methylation and micro-RNA alterations. Mutated genes are responsible for affecting synaptic transmission by causing plasticity dysfunction reactions. In fact, several genes are responsible for the pathogenesis, at the same time also regulate synaptogenesis and signalling pathways. So, it’s essential to deepen the theme as some epigenetic marks are rather stable or can even persist into the next generation, giving rise to long-term inhibition of gene expression. Knowing the genetic causes of neurodevelopmental disorders will serve to be able to implement, in the future, a primary prevention.

In recent years neurodevelopmental disorders have increased exponentially, so it is essential to deepen the etiopathogenesis factors and in particular the epigenetic targets, in addition to the classic biomolecular actors.

Dr. Miriam Zappella
Dr. Roberto Sacco
Dr. Alessandra Micera
Guest Editors

Manuscript Submission Information

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Keywords

  • epigenetic
  • developmental disorders
  • ADHD
  • autism
  • biomarkers
  • drugs
  • therapy

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Published Papers (6 papers)

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Editorial

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3 pages, 165 KiB  
Editorial
Editorial for the IJMS Special Issue on “Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives”
by Miriam Zappella, Roberto Sacco and Alessandra Micera
Int. J. Mol. Sci. 2024, 25(11), 5641; https://doi.org/10.3390/ijms25115641 - 22 May 2024
Viewed by 490
Abstract
In this Special Issue, we focus on the complex mechanisms underlying neurodevelopmental disorders (as delineated in the DSM-5), which are a group of neurological disorders that begin in childhood but significantly impact adult life [...] Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives)

Research

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13 pages, 531 KiB  
Article
The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns
by Elisabetta Bolognesi, Franca Rosa Guerini, Alessandra Carta, Matteo Chiappedi, Stefano Sotgiu, Martina Maria Mensi, Cristina Agliardi, Milena Zanzottera and Mario Clerici
Int. J. Mol. Sci. 2023, 24(18), 14042; https://doi.org/10.3390/ijms241814042 - 13 Sep 2023
Cited by 1 | Viewed by 1063
Abstract
Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing [...] Read more.
Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing a regressive-type onset (RO-ASD). It is still controversial whether regression represents a neurobiological subtype of ASD, resulting from distinct genetic and environmental causes. We focused this study on the 25 kD synaptosomal-associated protein (SNAP-25) gene involved in both post-synaptic formation and adhesion and considered a key player in the pathogenesis of ASD. To this end, four single nucleotide polymorphisms (SNPs) of the SNAP-25 gene, rs363050, rs363039, rs363043, and rs1051312, already known to be involved in neurodevelopmental and psychiatric disorders, were analyzed in a cohort of 69 children with EO-ASD and 58 children with RO-ASD. Both the rs363039 G allele and GG genotype were significantly more frequently carried by patients with EO-ASD than those with RO-ASD and healthy controls (HC). On the contrary, the rs1051312 T allele and TT genotype were more frequent in individuals with RO-ASD than those with EO-ASD and HC. Thus, two different SNAP-25 alleles/genotypes seem to discriminate between EO-ASD and RO-ASD. Notably, rs1051312 is located in the 3′ untranslated region (UTR) of the gene and is the target of microRNA (miRNA) regulation, suggesting a possible epigenetic role in the onset of regressive autism. These SNPs, by discriminating two different onset patterns, may represent diagnostic biomarkers of ASD and may provide insight into the different biological mechanisms towards the development of better tailored therapeutic and rehabilitative approaches. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives)
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12 pages, 888 KiB  
Communication
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)
by Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens and Peter Henneman
Int. J. Mol. Sci. 2023, 24(7), 6601; https://doi.org/10.3390/ijms24076601 - 1 Apr 2023
Cited by 4 | Viewed by 2070
Abstract
Fetal alcohol spectrum disorder (FASD) encompasses neurodevelopmental disabilities and physical birth defects associated with prenatal alcohol exposure. Previously, we attempted to identify epigenetic biomarkers for FASD by investigating the genome-wide DNA methylation (DNAm) profiles of individuals with FASD compared to healthy controls. In [...] Read more.
Fetal alcohol spectrum disorder (FASD) encompasses neurodevelopmental disabilities and physical birth defects associated with prenatal alcohol exposure. Previously, we attempted to identify epigenetic biomarkers for FASD by investigating the genome-wide DNA methylation (DNAm) profiles of individuals with FASD compared to healthy controls. In this study, we generated additional gene expression profiles in a subset of our previous FASD cohort, encompassing the most severely affected individuals, to examine the functional integrative effects of altered DNAm status on gene expression. We identified six differentially methylated regions (annotated to the SEC61G, REEP3, ZNF577, HNRNPF, MSC, and SDHAF1 genes) associated with changes in gene expression (p-value < 0.05). To the best of our knowledge, this study is the first to assess whole blood gene expression and DNAm-gene expression associations in FASD. Our results present novel insights into the molecular footprint of FASD in whole blood and opens opportunities for future research into multi-omics biomarkers for the diagnosis of FASD. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives)
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22 pages, 12614 KiB  
Article
Dysfunction of Prkcaa Links Social Behavior Defects with Disturbed Circadian Rhythm in Zebrafish
by Han Hu, Yong Long, Guili Song, Shaoxiong Chen, Zhicheng Xu, Qing Li and Zhengli Wu
Int. J. Mol. Sci. 2023, 24(4), 3849; https://doi.org/10.3390/ijms24043849 - 14 Feb 2023
Cited by 3 | Viewed by 1846
Abstract
Protein kinase Cα (PKCα/PRKCA) is a crucial regulator of circadian rhythm and is associated with human mental illnesses such as autism spectrum disorders and schizophrenia. However, the roles of PRKCA in modulating animal social behavior and the underlying mechanisms remain to be explored. [...] Read more.
Protein kinase Cα (PKCα/PRKCA) is a crucial regulator of circadian rhythm and is associated with human mental illnesses such as autism spectrum disorders and schizophrenia. However, the roles of PRKCA in modulating animal social behavior and the underlying mechanisms remain to be explored. Here we report the generation and characterization of prkcaa-deficient zebrafish (Danio rerio). The results of behavioral tests indicate that a deficiency in Prkcaa led to anxiety-like behavior and impaired social preference in zebrafish. RNA-sequencing analyses revealed the significant effects of the prkcaa mutation on the expression of the morning-preferring circadian genes. The representatives are the immediate early genes, including egr2a, egr4, fosaa, fosab and npas4a. The downregulation of these genes at night was attenuated by Prkcaa dysfunction. Consistently, the mutants demonstrated reversed day–night locomotor rhythm, which are more active at night than in the morning. Our data show the roles of PRKCA in regulating animal social interactions and link the social behavior defects with a disturbed circadian rhythm. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives)
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Review

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18 pages, 1448 KiB  
Review
Host–Microbiome Interactions: Tryptophan Metabolism and Aromatic Hydrocarbon Receptors after Traumatic Brain Injury
by Yanming Sun, Shuai Wang, Bingwei Liu, Wei Hu and Ying Zhu
Int. J. Mol. Sci. 2023, 24(13), 10820; https://doi.org/10.3390/ijms241310820 - 28 Jun 2023
Cited by 3 | Viewed by 1742
Abstract
Traumatic brain injury refers to the damage caused to intracranial tissues by an external force acting on the head, leading to both immediate and prolonged harmful effects. Neuroinflammatory responses play a critical role in exacerbating the primary injury during the acute and chronic [...] Read more.
Traumatic brain injury refers to the damage caused to intracranial tissues by an external force acting on the head, leading to both immediate and prolonged harmful effects. Neuroinflammatory responses play a critical role in exacerbating the primary injury during the acute and chronic phases of TBI. Research has demonstrated that numerous neuroinflammatory responses are mediated through the “microbiota–gut–brain axis,” which signifies the functional connection between the gut microbiota and the brain. The aryl hydrocarbon receptor (AhR) plays a vital role in facilitating communication between the host and microbiota through recognizing specific ligands produced directly or indirectly by the microbiota. Tryptophan (trp), an indispensable amino acid in animals and humans, represents one of the key endogenous ligands for AhR. The metabolites of trp have significant effects on the functioning of the central nervous system (CNS) through activating AHR signalling, thereby establishing bidirectional communication between the gut microbiota and the brain. These interactions are mediated through immune, metabolic, and neural signalling mechanisms. In this review, we emphasize the co-metabolism of tryptophan in the gut microbiota and the signalling pathway mediated by AHR following TBI. Furthermore, we discuss the impact of these mechanisms on the underlying processes involved in traumatic brain injury, while also addressing potential future targets for intervention. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives)
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18 pages, 632 KiB  
Review
Building Bricks of Integrated Care Pathway for Autism Spectrum Disorder: A Systematic Review
by Francesca Fulceri, Letizia Gila, Angela Caruso, Martina Micai, Giovanna Romano and Maria Luisa Scattoni
Int. J. Mol. Sci. 2023, 24(7), 6222; https://doi.org/10.3390/ijms24076222 - 26 Mar 2023
Cited by 6 | Viewed by 3492
Abstract
An integrated plan within a defined care pathway for the diagnosis, continuative interventions, and periodic redefinition of care of autistic people is essential for better outcomes. Challenges include delivering services across all domains or life stages and effective coordination between health/social care providers [...] Read more.
An integrated plan within a defined care pathway for the diagnosis, continuative interventions, and periodic redefinition of care of autistic people is essential for better outcomes. Challenges include delivering services across all domains or life stages and effective coordination between health/social care providers and services. Further, in the ‘real world’, service provision varies greatly, and in many settings is significantly weighted towards diagnosis and children’s services rather than treatment and support or adult care. This study aims to identify existing care pathways for Autism Spectrum Disorder (ASD) from referral to care management after diagnosis. The study reviewed the international literature in PubMed and PsycInfo databases and collected information on care for autistic individuals from the Autism Spectrum Disorders in Europe (ASDEU) project partners. The study found that published data mainly focused on specific components of care pathways rather than an integrated and coordinated plan of care and legislative indications. They should be aimed at facilitating access to the services for support and the inclusiveness of autistic individuals. Given the need for care addressing the complex and heterogeneous nature of ASD, effective coordination between different health/social care providers and services is essential. It is also suggested that research priority should be given to the identification of an integrated care pathway ‘model’ centered around case management, individualization, facilitation, support, continuous training and updating, and quality management. Full article
(This article belongs to the Special Issue Neurodevelopmental Disorders: From Epigenetic Basis to Therapeutic Perspectives)
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