Journal Browser

► Journal Browser

Special Issue Editors

Dr. Vincenzo Salpietro

E-Mail Website
Guest Editor

1. Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy
2. Department of Neuromuscular Disease, UCL Institute of Neurology, University College London, London, UK
Interests: neurogenetics; pediatric neurology; exome and genome sequencing; gene discovery; autism; neurodevelopmental disorders; genotype and phenotype correlation
Special Issues, Collections and Topics in MDPI journals

Dr. Stephanie Efthymiou

E-Mail Website
Co-Guest Editor

Department of Molecular Neuroscience, Queen Square Institute of Neurology, University College London (UCL), London, UK
Interests: sequencing; technologies; neurodevelopmental disorders; genetic epilepsies; next-generation sequencing; optical genome mapping; rare diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurodevelopmental disorders are a group of conditions in which the development of central nervous system is disturbed. This can include developmental brain dysfunction, which can manifest as neurological and neuropsychiatric problems during childhood, including impaired motor function, learning, language or non-verbal communication. Frequent neurological comorbidities include epilepsy, autism and movement disorders. This recent decade has witnessed significant advances in our understanding of the molecular basis underlying human neurodevelopmental disorders. Advances in DNA sequencing technologies and sequencing data analytical methods enabled us to identify the genetic aetiology in a large proportion of these disorders. Studies of model systems allowed to understand critical brain development process and to functionally characterize disease mechanisms underlying several neurodevelopmental disorders. This special issue brings together original research papers and reviews focused on neurodevelopmental disorders, including the application of iPS cells and organoids, therapy of genetic neurodevelopmental diseases, advances in gene mapping and identification, and studies in model organisms bringing novel insights into disease.

Dr. Vincenzo Salpietro
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 disorders genetics
Functional studies in neurodevelopmental disorders
Neurodevelopmental disorders cellular model systems
Neurodevelopmental disorders gene editing
Neurodevelopmental disorders animal models

Published Papers (2 papers)

Download All Papers

Research

Jump to: Review

17 pages, 414 KiB

Open AccessArticle

Gene Expression Profiling in Huntington’s Disease: Does Comorbidity with Depressive Symptoms Matter?

by Gabriela Delevati Colpo, Natalia Pessoa Rocha, Erin Furr Stimming and Antonio Lucio Teixeira

Int. J. Mol. Sci. 2020, 21(22), 8474; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms21228474 - 11 Nov 2020

Cited by 7 | Viewed by 1959

Abstract

Huntington’s disease (HD) is an inherited neurodegenerative disease. Besides the well-characterized motor symptoms, HD is marked by cognitive impairment and behavioral changes. In this study, we analyzed the blood of HD gene carries using RNA-sequencing techniques. We evaluated samples from HD gene carriers with (n = 8) and without clinically meaningful depressive symptoms (n = 8) compared with healthy controls (n = 8). Groups were age- and sex-matched. Preprocessing of data and between-group comparisons were calculated using DESeq2. The Wald test was used to generate p-values and log2 fold changes. We found 60 genes differently expressed in HD and healthy controls, of which 21 were upregulated and 39 downregulated. Within HD group, nineteen genes were differently expressed between patients with and without depression, being 6 upregulated and 13 downregulated. Several of the top differentially expressed genes are involved in nervous system development. Although preliminary, our findings corroborate the emerging view that in addition to neurodegenerative mechanisms, HD has a neurodevelopmental component. Importantly, the emergence of depression in HD might be related to these mechanisms. Full article

(This article belongs to the Special Issue The Genetic and Mechanistic Basis of Human Neurodevelopmental Disorders)

► Show Figures

Figure 1

Review

Jump to: Research

18 pages, 1584 KiB

Open AccessReview

Single-Cell Transcriptomics Supports a Role of CHD8 in Autism

by Anke Hoffmann and Dietmar Spengler

Int. J. Mol. Sci. 2021, 22(6), 3261; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22063261 - 23 Mar 2021

Cited by 11 | Viewed by 3772

Abstract

Chromodomain helicase domain 8 (CHD8) is one of the most frequently mutated and most penetrant genes in the autism spectrum disorder (ASD). Individuals with CHD8 mutations show leading symptoms of autism, macrocephaly, and facial dysmorphisms. The molecular and cellular mechanisms underpinning the early onset and development of these symptoms are still poorly understood and prevent timely and more efficient therapies of patients. Progress in this area will require an understanding of “when, why and how cells deviate from their normal trajectories”. High-throughput single-cell RNA sequencing (sc-RNAseq) directly quantifies information-bearing RNA molecules that enact each cell’s biological identity. Here, we discuss recent insights from sc-RNAseq of CRISPR/Cas9-editing of Chd8/CHD8 during mouse neocorticogenesis and human cerebral organoids. Given that the deregulation of the balance between excitation and inhibition (E/I balance) in cortical and subcortical circuits is thought to represent a major etiopathogenetic mechanism in ASD, we focus on the question of whether, and to what degree, results from current sc-RNAseq studies support this hypothesis. Beyond that, we discuss the pros and cons of these approaches and further steps to be taken to harvest the full potential of these transformative techniques. Full article

(This article belongs to the Special Issue The Genetic and Mechanistic Basis of Human Neurodevelopmental Disorders)

► Show Figures