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Biomedicines
Special Issues
Molecular Genetics of Psychiatric Pathology
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Molecular Genetics of Psychiatric Pathology

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 3492

Special Issue Editors

Dr. Vincenzo Dattilo

E-Mail Website
Guest Editor
Department of Experimental and Clinical Medicine, University “Magna Graecia” of Catan-Zaro, Viale Europa—Germaneto, 88100 Catanzaro, Italy
Interests: psychiatric disorders; schizophrenia; bipolar disorder; depression
Dr. Elisabetta Maffioletti

E-Mail Website
Guest Editor
Department of Theoretical and Applied Sciences, eCampus University, Novedrate, Como, Italy
Interests: psychiatric disorders; schizophrenia; bipolar disorder

Special Issue Information

Dear Colleagues,

Psychiatric disorders, including schizophrenia, major depression and bipolar disorder, are the leading cause of disability worldwide with an estimated 970 million affected people around the world. Environmental risk factors play an important role in the etiology of these disorders, but the high degree of their heritability suggests a significant contribution to inherited genetic variants. Despite the substantial progress achieved through several genetic studies that allowed the identification of over one hundred loci associated with major psychiatric disorders, the understanding of their biological meaning remains limited. Moreover, genetic variability has been also shown to partially account for the observed interindividual differences in disease features and in therapeutical responses, even though the underlying mechanisms are still largely unclear. These missing pieces represent an obstacle to the advancement of precision medicine in psychiatry.

This Special Issue entitled “Molecular Genetics of Psychiatric Pathology” aims to explore the molecular genetic underpinnings of major psychiatric disorders. Original research and reviews addressing the identification of genetic risk factors related to psychiatric disorders and related endophenotypes are welcome. Genome-wide association studies (GWAS) and pharmacogenetic studies will be particularly appreciated. We also warmly encourage you to propose novel functional studies elucidating genetic interactions and downstream mechanisms that could help to untangle the complex etiology of psychiatric disorders.

Dr. Vincenzo Dattilo
Dr. Elisabetta Maffioletti
Guest Editors

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. Biomedicines is an international peer-reviewed open access monthly 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 2600 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 disorders
  • schizophrenia
  • bipolar disorder
  • depression
  • genetic risk
  • GWAS
  • pharmacogenetics

Published Papers (3 papers)

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13 pages, 553 KiB  
Article
NOS1AP Gene Variants and Their Role in Metabolic Syndrome: A Study of Patients with Schizophrenia
by Irina A. Mednova, Ivan V. Pozhidaev, Vladimir V. Tiguntsev, Anna V. Bocharova, Diana Z. Paderina, Anastasiia S. Boiko, Olga Y. Fedorenko, Elena G. Kornetova, Nikolay A. Bokhan, Vadim A. Stepanov and Svetlana A. Ivanova
Biomedicines 2024, 12(3), 627; https://doi.org/10.3390/biomedicines12030627 - 12 Mar 2024
Viewed by 898
Abstract
Metabolic syndrome (MetS) is common among schizophrenia patients, and one of MetS’s causes may be an imbalance in nitric oxide regulation. In this study, we examined associations of three polymorphic variants of the nitric oxide synthase 1 adapter protein (NOS1AP) gene [...] Read more.
Metabolic syndrome (MetS) is common among schizophrenia patients, and one of MetS’s causes may be an imbalance in nitric oxide regulation. In this study, we examined associations of three polymorphic variants of the nitric oxide synthase 1 adapter protein (NOS1AP) gene with MetS in schizophrenia. NOS1AP regulates neuronal nitric oxide synthase, which controls intracellular calcium levels and may influence insulin secretion. The aim of the investigation was to study polymorphic variants of the NOS1AP gene as possible markers of MetS in patients with schizophrenia. A total of 489 Caucasian patients with schizophrenia (ICD-10) from Siberia (Russia) were included in the study, and 131 (26.8%) patients had MetS (IDF classification, 2007). The participants were genotyped for three single-nucleotide polymorphisms in NOS1AP (rs12143842, rs10494366, and rs12029454). Logistic regression was used for association analysis. Single-nucleotide polymorphisms, sex, and age served as covariates; the dependent variable was the coded parameter of the presence/absence of MetS. Polymorphisms rs12143842 and rs10494366 showed a stable association even after Bonferroni’s correction for multiple comparisons (p = 0.005 and 0.002, respectively), indicating a statistically significant contribution of these polymorphic variants to the pathogenesis of MetS. Our results suggest that in patients with schizophrenia, NOS1AP may be involved in MetS pathophysiology. Full article
(This article belongs to the Special Issue Molecular Genetics of Psychiatric Pathology)
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11 pages, 281 KiB  
Article
Impact of Pharmacogenetic Testing on Clozapine Treatment Efficacy in Patients with Treatment-Resistant Schizophrenia
by Estela Sangüesa, Emilio Fernández-Egea, Julia Concha, Cristina B. García and María Pilar Ribate
Biomedicines 2024, 12(3), 597; https://doi.org/10.3390/biomedicines12030597 - 7 Mar 2024
Viewed by 1086
Abstract
Managing schizophrenia with clozapine poses a significant challenge due to prevalent therapeutic failures. The increasing interest in personalized medicine underscores the importance of integrating pharmacogenetic information for effective pharmacotherapeutic monitoring in patients. The objective of this study was to explore the correlation between [...] Read more.
Managing schizophrenia with clozapine poses a significant challenge due to prevalent therapeutic failures. The increasing interest in personalized medicine underscores the importance of integrating pharmacogenetic information for effective pharmacotherapeutic monitoring in patients. The objective of this study was to explore the correlation between DRD2, HTR2A, SLC6A4, CYP1A2, and ABCB1 polymorphisms and clozapine response in 100 patients with Treatment-Resistant Schizophrenia. Different scales such as the Positive and Negative Syndrome Scale (PANSS), the Warwick-Edinburgh Mental Wellbeing Scale (SWEMWBS), the Global Assessment of Functioning Scale (GAF), the Brief Negative Symptom Scale (BNSS), and pharmacokinetic parameters were used to analyse the efficacy of the treatment. Patients who exclusively responded to clozapine compared to the patients with augmentation strategies exhibited distinctive features, such as lower doses, plasma levels, and presented less-pronounced symptomatology. Genetic associations were explored, highlighting SLC6A4, HTR2A, and the *1F/*1F polymorphism for the CYP1A2 gene. Full article
(This article belongs to the Special Issue Molecular Genetics of Psychiatric Pathology)

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16 pages, 807 KiB  
Systematic Review
Blood-Based MicroRNAs in Psychotic Disorders—A Systematic Review
by Ștefania-Alexandra Grosu, Maria Dobre, Elena Milanesi and Mihail Eugen Hinescu
Biomedicines 2023, 11(9), 2536; https://doi.org/10.3390/biomedicines11092536 - 14 Sep 2023
Cited by 1 | Viewed by 1112
Abstract
Psychotic disorders are a heterogenous class of mental illness, with an intricate pathophysiology, involving genetics and environmental factors, and their interaction. The identification of accessible biomarkers in bodily systems such as blood may lead to more accurate diagnosis, and more effective treatments targeting [...] Read more.
Psychotic disorders are a heterogenous class of mental illness, with an intricate pathophysiology, involving genetics and environmental factors, and their interaction. The identification of accessible biomarkers in bodily systems such as blood may lead to more accurate diagnosis, and more effective treatments targeting dysfunctional pathways, and could assist in monitoring the disease evolution. This systematic review aims to highlight the dysregulated microRNAs (miRNAs) in the peripheral blood of patients with psychotic disorders. Using the PRISMA protocol, PubMed and Science Direct databases were investigated and 22 articles were included. Fifty-five different miRNAs were found differentially expressed in the blood of psychotic patients compared to controls. Seventeen miRNAs (miR-34a, miR-181b, miR-432, miR-30e, miR-21, miR-137, miR-134, miR-7, miR-92a, miR-1273d, miR-1303, miR-3064-5p, miR-3131, miR-3687, miR-4428, miR-4725-3p, and miR-5096) were dysregulated with the same trend (up- or down-regulation) in at least two studies. Of note, miR-34a and miR-181b were up-regulated in the blood of psychotic patients in seven and six studies, respectively. Moreover, the level of miR-181b in plasma was found to be positively correlated with the amelioration of negative symptoms. The panel of miRNAs identified in this review could be validated in future studies in large and well-characterized cohorts of psychotic patients. Full article
(This article belongs to the Special Issue Molecular Genetics of Psychiatric Pathology)
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