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Genetics of Neuropsychiatric Disorders
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Genetics of Neuropsychiatric Disorders

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

Deadline for manuscript submissions: 25 October 2025 | Viewed by 2538

Special Issue Editors

Dr. Melloni Cook

E-Mail Website
Guest Editor
Department of Psychology, University of Memphis, Memphis, TN 38152, USA
Interests: genetics of complex traits; behavioral genetics; anxiety; stress; learning and memory; stress/ethanol interactions
Dr. Kristin Hamre

E-Mail Website
Guest Editor
Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, TN 38163, USA
Interests: genetics of substance abuse particularly following developmental exposure; genetics of behavioral traits; interaction of sex and genetics

Special Issue Information

Dear Colleagues,

Neuropsychiatric disorders are pervasive and can be debilitating. Further, individuals with these disorders often have delayed diagnoses or present comorbid disorders. Treatment options remain limited, are often associated with undesirable side effects, and have significant nonresponse rates. As many of these disorders involve a genetic component, identifying and characterizing genetic influences on these disorders may help in discovering biomarkers for early/better detection, characterizing causal variants, pinpointing novel pathways as targets for the development of therapeutics, and determining whether comorbid disorders have common underlying mechanisms. Thanks to conceptual, technical, and bioinformatic advances, we are better positioned to understand these complex disorders.

In the Special Issue of Genes, we will highlight recent discoveries in the genetics of neuropsychiatric disorders, including major depressive disorder, schizophrenia, post-traumatic stress disorder, anxiety disorders, addiction, stress-related disorders, and their related phenotypes. We welcome review and original articles in the following areas: behavioral neuroscience, gene expression analyses, epigenetics, optogenetics, and miRNA expression, among others. Works employing animal models, clinical populations, or human tissues are welcome.

Dr. Melloni Cook
Dr. Kristin Hamre
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. Genes 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

  • major depressive disorder
  • schizophrenia
  • post-traumatic stress disorder
  • addiction
  • alcohol
  • drugs
  • anxiety disorder
  • stress-related disorders
  • genes
  • epigenetics
  • mRNA
  • optogenetics
  • miRNA
  • causal variant

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Published Papers (3 papers)

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24 pages, 2331 KiB  
Article
Auditory Event-Related Potentials in Two Rat Models of Attention-Deficit Hyperactivity Disorder: Evidence of Automatic Attention Deficits in Spontaneously Hypertensive Rats but Not in Latrophilin-3 Knockout Rats
by Logan M. Brewer, Jankiben Patel, Frank Andrasik, Jeffrey J. Sable, Michael T. Williams, Charles V. Vorhees and Helen J. K. Sable
Genes 2025, 16(6), 672; https://doi.org/10.3390/genes16060672 - 30 May 2025
Viewed by 567
Abstract
Background/Objectives: Variations of the latrophilin-3 (Lphn3) gene have been associated with attention-deficit hyperactivity disorder (ADHD). To explore the functional influence of this gene, Lphn3 knockout (KO) rats were generated and have thus far demonstrated deficits in ADHD-relevant phenotypes, including working memory, [...] Read more.
Background/Objectives: Variations of the latrophilin-3 (Lphn3) gene have been associated with attention-deficit hyperactivity disorder (ADHD). To explore the functional influence of this gene, Lphn3 knockout (KO) rats were generated and have thus far demonstrated deficits in ADHD-relevant phenotypes, including working memory, impulsivity, and hyperactivity. However, inattention remains unexplored. Methods: We assessed automatic attention in Lphn3 KO (n = 19) and their control line (wildtype/WT, n = 20) through use of the following auditory event-related potentials (ERPs): P1, N1, P2, and N2. We also extended this exploratory study by comparing these same ERPs in spontaneously hypertensive rats (SHRs, n = 16), the most commonly studied animal model of ADHD, to their control line (Wistar–Kyoto/WKY, n = 20). Electroencephalograms (EEG) were recorded using subdermal needle electrodes at frontocentral sites while freely moving rats were presented with five-tone trains (50 ms tones, 400 ms tone onset asynchronies) with varying short (1 s) and long (5 s) inter-train intervals. Peak amplitudes and latencies were analyzed using GLM-mixed ANOVAs to assess differences across genotypes (KO vs. WTs) and strains (SHRs vs. WKYs). Results: The KOs did not demonstrate any significant differences in peak amplitudes relative to the WT controls, suggesting that the null expression of Lphn3 does not result in the development of inefficiencies in automatic attention. However, the SHRs exhibited significantly reduced peak P1 (and peak-to-peak P1–N1) values relative to the WKYs. These attenuations likely reflect inefficiencies in bottom-up arousal networks that are necessary for efficient automatic processing. Conclusions: Distinct findings between these animal models likely reflect differing alterations in dopamine and noradrenaline neurotransmission that may underlie ADHD-relevant phenotypes. Full article
(This article belongs to the Special Issue Genetics of Neuropsychiatric Disorders)
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16 pages, 2809 KiB  
Article
Neuromolecular Basis of Impaired Conditioned Taste Aversion Acquisition in Valproate-Induced Rat Model of Autism Spectrum Disorder
by Tapasya Pal, Savannah Harvey, Allen S. Levine, Pawel K. Olszewski and Anica Klockars
Genes 2025, 16(2), 203; https://doi.org/10.3390/genes16020203 - 7 Feb 2025
Viewed by 1335
Abstract
Background/Objectives: Autism spectrum disorder (ASD), defined by social, behavioral, and cognitive anomalies, is also associated with dysregulated appetite. ASD individuals, often described as “picky eaters”, exhibit restricted dietary preferences and a pronounced avoidance of novel foods. This suggests that the perceived safety of [...] Read more.
Background/Objectives: Autism spectrum disorder (ASD), defined by social, behavioral, and cognitive anomalies, is also associated with dysregulated appetite. ASD individuals, often described as “picky eaters”, exhibit restricted dietary preferences and a pronounced avoidance of novel foods. This suggests that the perceived safety of specific tastants may be a crucial determinant of dietary acceptance in ASD. Here, we explore the hypothesis that conditioned taste aversion (CTA), a learned avoidance of foods whose intake promotes sickness, is exacerbated in ASD. Methods: We assessed the magnitude of a lithium chloride (LiCl)-induced CTA in the valproic acid (VPA) rat model of autism versus in healthy control rats. We also examined the effect of a standard 3 mEq LiCl dose on transcript and neuronal activation changes in brain circuits mediating feeding behavior and associative learning. Results: Surprisingly, we found that while 3 mEq LiCl induced CTA in healthy controls, even the 6 mEq dose was ineffective in generating aversion in VPA rats. LiCl at 3 mEq affected c-Fos immunoreactivity in the hypothalamus and amygdala in controls, whereas in VPA rats it did not produce any c-Fos changes. Gene expression analysis of feeding-related genes (AgRP, NPY, OXT) and those involved in regulating stress and anxiety (DOR and MC3R) were differentially regulated in the VPA rats. Interestingly, transcripts for COMT1, AgRP, OXT, and MC3R were downregulated in saline-treated VPA rats compared to saline-treated controls. Conclusions: We conclude that VPA rats show blunted CTA responsiveness, which is reflected by a differential impact of LiCl on circuits that promote the acquisition of CTA in healthy versus autistic individuals. Full article
(This article belongs to the Special Issue Genetics of Neuropsychiatric Disorders)
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Other

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8 pages, 1197 KiB  
Case Report
A Case of Infantile Epileptic Spasms Syndrome with the SPTBN1 Mutation and Review of βII-Spectrin Variants
by Han Na Jang, Juyeon Ryu, Seung Soo Kim and Jin-Hwa Moon
Genes 2025, 16(8), 904; https://doi.org/10.3390/genes16080904 - 29 Jul 2025
Viewed by 209
Abstract
Background: Spectrin proteins are critical cytoskeleton components that maintain cellular structure and mediate intracellular transport. Pathogenic variants in SPTBN1, encoding βII-spectrin, have been associated with various neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorder, and epilepsy. Here we report [...] Read more.
Background: Spectrin proteins are critical cytoskeleton components that maintain cellular structure and mediate intracellular transport. Pathogenic variants in SPTBN1, encoding βII-spectrin, have been associated with various neurodevelopmental disorders, including developmental delay, intellectual disability, autism spectrum disorder, and epilepsy. Here we report a Korean infant with infantile epileptic spasms syndrome (IESS) and an SPTBN1 mutation and provide a review of this mutation. Methods: The genomic data of the patient were analyzed by whole exome sequencing. A comprehensive literature review was conducted to identify and analyze all reported SPTBN1 variants, resulting in a dataset of 60 unique mutations associated with neurodevelopmental phenotypes. Case Presentation: A 10-month-old Korean female presented with IESS associated with a de novo heterozygous SPTBN1 mutation (c.785A>T; p.Asp262Val). The patient exhibited global developmental delay, microcephaly, hypotonia, spasticity, and MRI findings of diffuse cerebral atrophy and corpus callosum hypoplasia. Electroencephalography revealed hypsarrhythmia, confirming the diagnosis of IESS. Seizures persisted despite initial treatment with vigabatrin and steroids. Genetic analysis identified a likely pathogenic variant within the calponin homology 2 (CH2) domain of SPTBN1. Conclusions: This is the first report of an association between IESS and an SPTBN1 CH2 domain mutation in a Korean infant. This finding expands the clinical spectrum of SPTBN1-related disorders and suggests domain-specific effects may critically influence phenotypic severity. Further functional studies are warranted to elucidate the pathogenic mechanisms of domain-specific variants. Full article
(This article belongs to the Special Issue Genetics of Neuropsychiatric Disorders)
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