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Genetic Basis Underlying Neuropsychiatric Disorders 2.0
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Genetic Basis Underlying Neuropsychiatric Disorders 2.0

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 March 2024) | Viewed by 10559

Special Issue Editor

Dr. Xingguang Luo

E-Mail Website
Guest Editor
Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06510, USA
Interests: neuropsychiatric disorders; schizophrenia; depression; ADHD; autism; substance dependence; genetics; risk SNPs; mRNA expression
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a continuation of our previous Special Issue “Genetic Basis Underlying Neuropsychiatric Disorders” (https://www.mdpi.com/journal/genes/special_issues/Neuropsychiatric_Genetic).

Numerous neuropsychiatric disorders, endophenotypes, personality and neuroimaging traits share common genetic bases, which may underlie their common symptoms/characteristics and high rates of comorbidities or common neuropathogenesis. However, these shared genetic factors have not been comprehensively or systematically investigated. The aim of this Special Issue is to collect research findings concerning this topic, especially welcoming reliable findings accompanied by independent self-validations, innovative study designs, cutting-edge analytic approaches and/or at the genome-wide scale.

Dr. Xingguang Luo
Guest Editor

Manuscript Submission Information

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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

  • neuropsychiatric disorders
  • genetics
  • neuroimaging
  • shared heritability
  • genome-wide
  • comorbidity
  • common pathogenesis bases

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Published Papers (4 papers)

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Research

20 pages, 2244 KiB  
Article
Altered Expression of PDE4 Genes in Schizophrenia: Insights from a Brain and Blood Sample Meta-Analysis and iPSC-Derived Neurons
by Nitzan Burrack, Assif Yitzhaky, Liron Mizrahi, Meiyan Wang, Shani Stern and Libi Hertzberg
Genes 2024, 15(5), 609; https://doi.org/10.3390/genes15050609 - 10 May 2024
Cited by 2 | Viewed by 1835
Abstract
Schizophrenia symptomatology includes negative symptoms and cognitive impairment. Several studies have linked schizophrenia with the PDE4 family of enzymes due to their genetic association and function in cognitive processes such as long-term potentiation. We conducted a systematic gene expression meta-analysis of four PDE4 [...] Read more.
Schizophrenia symptomatology includes negative symptoms and cognitive impairment. Several studies have linked schizophrenia with the PDE4 family of enzymes due to their genetic association and function in cognitive processes such as long-term potentiation. We conducted a systematic gene expression meta-analysis of four PDE4 genes (PDE4A-D) in 10 brain sample datasets (437 samples) and three blood sample datasets (300 samples). Subsequently, we measured mRNA levels in iPSC-derived hippocampal dentate gyrus neurons generated from fibroblasts of three groups: healthy controls, healthy monozygotic twins (MZ), and their MZ siblings with schizophrenia. We found downregulation of PDE4B in brain tissues, further validated by independent data of the CommonMind consortium (515 samples). Interestingly, the downregulation signal was present in a subgroup of the patients, while the others showed no differential expression or even upregulation. Notably, PDE4A, PDE4B, and PDE4D exhibited upregulation in iPSC-derived neurons compared to healthy controls, whereas in blood samples, PDE4B was found to be upregulated while PDE4A was downregulated. While the precise mechanism and direction of altered PDE4 expression necessitate further investigation, the observed multilevel differential expression across the brain, blood, and iPSC-derived neurons compellingly suggests the involvement of PDE4 genes in the pathophysiology of schizophrenia. Full article
(This article belongs to the Special Issue Genetic Basis Underlying Neuropsychiatric Disorders 2.0)
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11 pages, 2525 KiB  
Article
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
by Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso and Fiorella Gurrieri
Genes 2023, 14(7), 1353; https://doi.org/10.3390/genes14071353 - 27 Jun 2023
Cited by 3 | Viewed by 1485
Abstract
Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal CAMK2A gene have been recently associated with “intellectual developmental disorder, autosomal dominant 53″ (OMIM#617798), a syndrome characterized [...] Read more.
Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in the neuronal CAMK2A gene have been recently associated with “intellectual developmental disorder, autosomal dominant 53″ (OMIM#617798), a syndrome characterized by variable clinical manifestations including mild to severe intellectual disability, delayed psychomotor development, delayed or absent speech, delayed walking, seizures, dysmorphic features and behavioral psychiatric manifestations as autism spectrum disorders, aggressive behavior, and hyperactivity. CAMK2A (OMIM*114078) encodes for a subunit of the calcium/calmodulin-dependent serine/threonine kinase II (CaMKII), which is predominately expressed in the brain, where it plays critical roles in synaptic plasticity, learning, and memory as well as in neuronal migration. Methods and Results: We hereby describe a thirty-five-year-old woman affected by severe intellectual disability with epileptic encephalopathy. We performed exome sequencing and found a de novo heterozygous variant in the CAMK2A gene (NM_171825.2: c.874_876delCTT; p.Lys292del), which was fully correlated with her phenotype. This is the first report of an inframe single amino acid deletion in a patient affected by intellectual developmental disorder autosomal dominant 53. The variant is predicted to affect protein structure and function and interaction with other proteins and hits a crucial functional site. Discussion: We discuss our variant in relation to previously reported variants and with the objective of delineating possible genotype–phenotype correlations. Full article
(This article belongs to the Special Issue Genetic Basis Underlying Neuropsychiatric Disorders 2.0)
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15 pages, 1609 KiB  
Article
A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family
by Marah H. Wahbeh, Xi Peng, Sofia Bacharaki, Alexandros Hatzimanolis, Stefanos Dimitrakopoulos, Elizabeth Wohler, Xue Yang, Christian Yovo, Brady J. Maher, Nara Sobreira, Nikos C. Stefanis and Dimitrios Avramopoulos
Genes 2023, 14(1), 177; https://doi.org/10.3390/genes14010177 - 9 Jan 2023
Cited by 3 | Viewed by 3427
Abstract
The polygenic nature of schizophrenia (SCZ) implicates many variants in disease development. Rare variants of high penetrance have been shown to contribute to the disease prevalence. Whole-exome sequencing of a large three-generation family with SCZ and bipolar disorder identified a single segregating novel, [...] Read more.
The polygenic nature of schizophrenia (SCZ) implicates many variants in disease development. Rare variants of high penetrance have been shown to contribute to the disease prevalence. Whole-exome sequencing of a large three-generation family with SCZ and bipolar disorder identified a single segregating novel, rare, non-synonymous variant in the gene CASKIN1. The variant D1204N is absent from all databases, and CASKIN1 has a gnomAD missense score Z = 1.79 and pLI = 1, indicating its strong intolerance to variation. We find that introducing variants in the proline-rich region where the D1204N resides results in significant cellular changes in iPSC-derived neurons, consistent with CASKIN1’s known functions. We observe significant transcriptomic changes in 368 genes (padj < 0.05) involved in neuronal differentiation and nervous system development. We also observed nominally significant changes in the frequency of action potentials during differentiation, where the speed at which the edited and unedited cells reach the same level of activity differs. Our results suggest that CASKIN1 is an excellent gene candidate for psychosis development with high penetrance in this family. Full article
(This article belongs to the Special Issue Genetic Basis Underlying Neuropsychiatric Disorders 2.0)
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13 pages, 2386 KiB  
Article
Evaluating the Genetic Effects of Gut Microbiota on the Development of Neuroticism and General Happiness: A Polygenic Score Analysis and Interaction Study Using UK Biobank Data
by Yumeng Jia, Shiqiang Cheng, Li Liu, Bolun Cheng, Chujun Liang, Jing Ye, Xiaomeng Chu, Yao Yao, Yan Wen, Om Prakash Kafle and Feng Zhang
Genes 2023, 14(1), 156; https://doi.org/10.3390/genes14010156 - 6 Jan 2023
Viewed by 2583
Abstract
Limited efforts have been invested in exploring the interaction effects between genetic factors and gut microbiota on neuroticism and general happiness. The polygenic risk scores (PRS) of gut microbiota were calculated from individual-level genotype data of the UK Biobank cohort. Linear regression models [...] Read more.
Limited efforts have been invested in exploring the interaction effects between genetic factors and gut microbiota on neuroticism and general happiness. The polygenic risk scores (PRS) of gut microbiota were calculated from individual-level genotype data of the UK Biobank cohort. Linear regression models were then used to assess the associations between individual PRS of gut microbiota and mental traits and interaction analysis was performed by PLINK2.0. KOBAS-i was used to conduct gene ontology (GO) enrichment analysis of the identified genes. We observed suggestive significant associations between neuroticism and PRS for the genus Bifidobacterium (rank-normal transformation, RNT) (beta = −1.10, P = 4.16 × 10−3) and the genus Desulfovibrio (RNT) (beta = 0.54, P = 7.46 × 10−3). PRS for the genus Bifidobacterium (hurdle binary, HB) (beta = 1.99, P = 5.24 × 10−3) and the genus Clostridium (RNT) (beta = 1.26, P = 9.27 × 10−3) were found to be suggestive positively associated with general happiness. Interaction analysis identified several significant genes that interacted with gut microbiota, such as RORA (rs575949009, beta = −45.00, P = 1.82 × 10−9) for neuroticism and ASTN2 (rs36005728, beta = 19.15, P = 3.37 × 10−8) for general happiness. Our study results support the genetic effects of gut microbiota on the development of neuroticism and general happiness. Full article
(This article belongs to the Special Issue Genetic Basis Underlying Neuropsychiatric Disorders 2.0)
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