The Genetic Basis of Mental Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 February 2024) | Viewed by 1976

Special Issue Editors


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Guest Editor
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy
Interests: genetics; endophenotype; gene-environment interaction; poligenic risk score; genetic variants
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy
Interests: medical statistics; psychiatric epidemiology; epidemiological designs
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In recent years, considerable efforts have been made to better understand the genetic basis of mental disorders, such as schizophrenia, bipolar disorder, depression, eating disorders and obsessive–compulsive disorders. Several large-scale and collaborative projects applying modern genomic methods are starting to reveal the genetic architecture of these disorders and identify long-sought risk genes. However, it is not completely understood whether environmental factors increase vulnerability independent of genetic risk, interact with it, or are a manifestation of a predisposition to mental disorders. In this context, a new challenge has arisen regarding the search for biomarkers that, together with the results of other investigations, can accelerate proper diagnosis and treatment.

The purpose of this Special Issue is to summarize what we currently know about the genomics of mental disorders and the contribution of environmental factors. The Special Issue will focus on experimental papers and review articles that discuss the genetic basis of mental disorders and the contribution of environmental factors to the biological vulnerability that shapes both the onset and the course of mental disorders. This Special Issue also seeks papers that discuss molecular biomarkers, and their use in prognostic models or in the validation of mental disorders.

Dr. Sarah Tosato
Dr. Chiara Bonetto
Guest Editors

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Published Papers (2 papers)

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20 pages, 681 KiB  
Article
The Influence of Genetic Polymorphic Variability of the Catechol-O-methyltransferase Gene in a Group of Patients with a Diagnosis of Behavioural Addiction, including Personality Traits
by Remigiusz Recław, Krzysztof Chmielowiec, Aleksandra Suchanecka, Agnieszka Boroń, Jolanta Chmielowiec, Aleksandra Strońska-Pluta, Michał Tomasz Kowalski, Jolanta Masiak, Grzegorz Trybek and Anna Grzywacz
Genes 2024, 15(3), 299; https://doi.org/10.3390/genes15030299 - 26 Feb 2024
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Abstract
Gambling Disorder (GD) is characterised by a harmful, enduring, and recurrent involvement in betting-related behaviours. Therefore, GD shares similar biological mechanisms and symptoms to substance use disorders (SUD). Therefore, in this study, we chose the behavioural addictions group. During the examination and recruitment [...] Read more.
Gambling Disorder (GD) is characterised by a harmful, enduring, and recurrent involvement in betting-related behaviours. Therefore, GD shares similar biological mechanisms and symptoms to substance use disorders (SUD). Therefore, in this study, we chose the behavioural addictions group. During the examination and recruitment to the study, it turned out that all the people undergoing treatment for gambling addiction were also addicted to amphetamines, which is consistent with the biological mechanism related to cerebral neurotransmission. The aim of the study was to investigate the association of the COMT gene polymorphism with behavioral addiction. The study group consisted of 307 participants: 107 men with gambling disorder and amphetamine dependency (mean age = 27.51, SD = 5.25) and 200 non-addicted, nor dependent, free from neuro-psychiatric disorders control group men (mean age = 20.20, SD = 4.51). Both groups were subjected to psychometric evaluation using the State-Trait Anxiety Inventory and the NEO Five-Factor Personality Inventory. Genomic DNA was extracted from venous blood following standard protocols. Determination of the rs4680 polymorphism in the COMT gene was performed using the real-time PCR technique. Statistically significant differences in the frequency of rs4680 genotypes were found in the tested sample of subjects compared with the control group (p = 0.03543). Subjects with gambling disorder and amphetamine use disorder compared to the control group obtained higher scores in the assessment of the STAI trait scale (p = 0.0019), state scale (p < 0.0000), and NEO-FFI Neuroticism scale (p < 0.0000). Significantly lower results were obtained for the NEO-FFI Agreeability scale (p < 0.0000). Additionally, a significant statistical impact of gambling disorder and amphetamine use disorder, and the COMT rs4680 genotype was demonstrated for the score of the STAI trait (p = 0.0351) and state (p = 0.0343) and the NEO-FFI Conscientiousness scale (p = 0.0018). We conclude that COMT and its polymorphic variant influence the development of addiction. Still, considering its multifactorial and polygenic nature, it should be combined with other factors such as personality. Full article
(This article belongs to the Special Issue The Genetic Basis of Mental Disorders)
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The Risk Genes for Neuropsychiatric Disorders negr1 and opcml Are Expressed throughout Zebrafish Brain Development
by Judith Habicher, Ilaria Sanvido, Anja Bühler, Samuele Sartori, Giovanni Piccoli and Matthias Carl
Genes 2024, 15(3), 363; https://doi.org/10.3390/genes15030363 - 14 Mar 2024
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Abstract
The immunoglobulin LAMP/OBCAM/NTM (IgLON) family of cell adhesion molecules comprises five members known for their involvement in establishing neural circuit connectivity, fine-tuning, and maintenance. Mutations in IgLON genes result in alterations in these processes and can lead to neuropsychiatric disorders. The two IgLON [...] Read more.
The immunoglobulin LAMP/OBCAM/NTM (IgLON) family of cell adhesion molecules comprises five members known for their involvement in establishing neural circuit connectivity, fine-tuning, and maintenance. Mutations in IgLON genes result in alterations in these processes and can lead to neuropsychiatric disorders. The two IgLON family members NEGR1 and OPCML share common links with several of them, such as schizophrenia, autism, and major depressive disorder. However, the onset and the underlying molecular mechanisms have remained largely unresolved, hampering progress in developing therapies. NEGR1 and OPCML are evolutionarily conserved in teleosts like the zebrafish (Danio rerio), which is excellently suited for disease modelling and large-scale screening for disease-ameliorating compounds. To explore the potential applicability of zebrafish for extending our knowledge on NEGR1- and OPCML-linked disorders and to develop new therapeutic strategies, we investigated the spatio-temporal expression of the two genes during early stages of development. negr1 and opcml are expressed maternally and subsequently in partially distinct domains of conserved brain regions. Other areas of expression in zebrafish have not been reported in mammals to date. Our results indicate that NEGR1 and OPCML may play roles in neural circuit development and function at stages earlier than previously anticipated. A detailed functional analysis of the two genes based on our findings could contribute to understanding the mechanistic basis of related psychiatric disorders. Full article
(This article belongs to the Special Issue The Genetic Basis of Mental Disorders)
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