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Cells
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Molecular Genetics of Neuropsychiatric Diseases
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Molecular Genetics of Neuropsychiatric Diseases

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cells of the Nervous System".

Deadline for manuscript submissions: closed (8 March 2024) | Viewed by 11713

Special Issue Editors

Dr. Yingwei Mao

E-Mail Website1 Website2
Guest Editor
Department of Biology, Pennsylvania State University, University Park, PA 16802, USA
Interests: schizophrenia
Dr. Xin Tang

E-Mail Website1 Website2
Guest Editor
Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
Interests: brain disease drug discovery

Special Issue Information

Dear Colleagues, 

Psychiatric diseases, such as schizophrenia, bipolar disorder and autism spectrum disorder, are devastating brain disorders with a major unmet therapeutic need. The high degree of heritability suggests that inherited genetic variants contribute to the etiology of schizophrenia and autism and lead to early developmental perturbations. Recently, substantial progress has identified over one hundred gene loci associated with schizophrenia, bipolar disorder and autism. These findings have raised a hope of being able to use human genetics to uncover new drug targets and to develop novel treatment paradigms. However, molecular functions and genetic interactions of many newly identified risk genes in the nervous system are completely unknown. The insight into the potential mechanisms underlying the genetic risks of these disorders could potentially revolutionize our approach to the diagnosis and treatment of these complex mental illnesses. 

This Special Issue entitled “Molecular Genetics of Neuropsychiatric Diseases” welcomes original research and reviews on studying new genetic risk factors associated with or linked to different psychiatric disorders. The SI will focus on mechanistic studies of the risk genes on proliferation and differentiation of neural stem cells, cell fate determination, neuronal maturation, migration during neurodevelopment, behavioral regulation and therapeutic intervention using different animal models and human iPSCs. Other novel studies that help to better understand the etiology of psychiatric illness are also welcome. 

We are looking forward to your contributions to this Special Issue.

Dr. Yingwei Mao
Dr. Xin Tang
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. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). 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

  • Psychiatric disease
  • Schizophrenia
  • Autism
  • Bipolar disorder
  • Depression
  • Neurodevelopment
  • Genetic risk

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Published Papers (3 papers)

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Research

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17 pages, 5277 KiB  
Article
A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder
by Jie Huang, Jun Liu, Ruiyi Tian, Kevin Liu, Patrick Zhuang, Hannah Tayla Sherman, Christoph Budjan, Michelle Fong, Min-Seo Jeong and Xue-Jun Kong
Cells 2022, 11(1), 10; https://doi.org/10.3390/cells11010010 - 21 Dec 2021
Cited by 11 | Viewed by 4562 | Correction
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods [...] Read more.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation, tailored towards patients with ASD and offer very limited interpretation for clinical significance. Using WGS data from six family trios, we demonstrate the clinical feasibility and technical implementation of an evidence-based, fully transparent bioinformatics pipeline and report framework for an ASD-focused WGS genetic report. We confirmed a portion of the key variants with Sanger sequencing and provided interpretation with consideration of patients’ clinical symptoms and detailed literature review. Furthermore, we showed that identification of the genetic contributions of ASD core symptoms and comorbidities may promote a better understanding of the ASD pathophysiology, lead to early detection of associated comorbidities, and facilitate pharmacologic intervention based on pathological pathways inferred from the genetic information. We will make the bioinformatics pipeline and interpretation framework publicly available, in an easily accessible format, after validation with a larger cohort. We hope that the present proposed protocol can serve as a starting point to invite discourse and debate to further improve approaches in WGS-based genetic consultation for patients with ASD. Full article
(This article belongs to the Special Issue Molecular Genetics of Neuropsychiatric Diseases)
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Review

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42 pages, 1654 KiB  
Review
Brain RFamide Neuropeptides in Stress-Related Psychopathologies
by Anita Kovács, Evelin Szabó, Kristóf László, Erika Kertes, Olga Zagorácz, Kitti Mintál, Attila Tóth, Rita Gálosi, Bea Berta, László Lénárd, Edina Hormay, Bettina László, Dóra Zelena and Zsuzsanna E. Tóth
Cells 2024, 13(13), 1097; https://doi.org/10.3390/cells13131097 - 25 Jun 2024
Cited by 1 | Viewed by 1402
Abstract
The RFamide peptide family is a group of proteins that share a common C-terminal arginine–phenylalanine–amide motif. To date, the family comprises five groups in mammals: neuropeptide FF, LPXRFamides/RFamide-related peptides, prolactin releasing peptide, QRFP, and kisspeptins. Different RFamide peptides have their own cognate receptors [...] Read more.
The RFamide peptide family is a group of proteins that share a common C-terminal arginine–phenylalanine–amide motif. To date, the family comprises five groups in mammals: neuropeptide FF, LPXRFamides/RFamide-related peptides, prolactin releasing peptide, QRFP, and kisspeptins. Different RFamide peptides have their own cognate receptors and are produced by different cell populations, although they all can also bind to neuropeptide FF receptors with different affinities. RFamide peptides function in the brain as neuropeptides regulating key aspects of homeostasis such as energy balance, reproduction, and cardiovascular function. Furthermore, they are involved in the organization of the stress response including modulation of pain. Considering the interaction between stress and various parameters of homeostasis, the role of RFamide peptides may be critical in the development of stress-related neuropathologies. This review will therefore focus on the role of RFamide peptides as possible key hubs in stress and stress-related psychopathologies. The neurotransmitter coexpression profile of RFamide-producing cells is also discussed, highlighting its potential functional significance. The development of novel pharmaceutical agents for the treatment of stress-related disorders is an ongoing need. Thus, the importance of RFamide research is underlined by the emergence of peptidergic and G-protein coupled receptor-based therapeutic targets in the pharmaceutical industry. Full article
(This article belongs to the Special Issue Molecular Genetics of Neuropsychiatric Diseases)
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17 pages, 763 KiB  
Review
The Physiological Roles of the Exon Junction Complex in Development and Diseases
by Shravan Asthana, Hannah Martin, Julian Rupkey, Shray Patel, Joy Yoon, Abiageal Keegan and Yingwei Mao
Cells 2022, 11(7), 1192; https://doi.org/10.3390/cells11071192 - 1 Apr 2022
Cited by 14 | Viewed by 4575
Abstract
The exon junction complex (EJC) becomes an increasingly important regulator of early gene expression in the central nervous system (CNS) and other tissues. The EJC is comprised of three core proteins: RNA-binding motif 8A (RBM8A), Mago homolog (MAGOH), eukaryotic initiation factor 4A3 (EIF4A3), [...] Read more.
The exon junction complex (EJC) becomes an increasingly important regulator of early gene expression in the central nervous system (CNS) and other tissues. The EJC is comprised of three core proteins: RNA-binding motif 8A (RBM8A), Mago homolog (MAGOH), eukaryotic initiation factor 4A3 (EIF4A3), and a peripheral EJC factor, metastatic lymph node 51 (MLN51), together with various auxiliary factors. The EJC is assembled specifically at exon-exon junctions on mRNAs, hence the name of the complex. The EJC regulates multiple levels of gene expression, from splicing to translation and mRNA degradation. The functional roles of the EJC have been established as crucial to the normal progress of embryonic and neurological development, with wide ranging implications on molecular, cellular, and organism level function. Dysfunction of the EJC has been implicated in multiple developmental and neurological diseases. In this review, we discuss recent progress on the EJC’s physiological roles. Full article
(This article belongs to the Special Issue Molecular Genetics of Neuropsychiatric Diseases)
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