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Biomedicines
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Genetic Research on Neuropsychiatric Disorders and Complex Human Diseases
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Genetic Research on Neuropsychiatric Disorders and Complex Human Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 4163

Special Issue Editor

Dr. Wen Zhang

E-Mail Website
Guest Editor
Charles E. Schmidt College of Science, Florida Atlantic University, Boca Raton, FL, USA
Interests: computational genetics; neuropsychiatric disorder; big data analysis; deep learning; statistical modelling; bioinformatics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Genetic research on neuropsychiatric disorders and other complex human diseases, such as cancer, autoimmune conditions, and aging-related diseases, is advancing rapidly, employing a diverse range of methodologies. This Special Issue aims to explore the intersection of genetic factors across these various diseases, highlighting the integration of traditional techniques and modern approaches. Neuropsychiatric disorders, including schizophrenia, bipolar disorder, and major depression, exemplify the intricate interplay of genetic, environmental, and lifestyle influences. Simultaneously, complex diseases like cancer and autoimmune disorders present unique genetic challenges and opportunities for research. By utilizing bioinformatics tools and advanced data analysis methods, researchers can effectively analyze large-scale genomic datasets. Traditional approaches, such as linkage analysis and candidate gene studies, are complemented by modern multi-omics strategies—encompassing genomics, transcriptomics, proteomics, and metabolomics—to provide a holistic understanding of disease mechanisms. This integrative approach facilitates the identification of genetic variations and their biological implications across multiple disease contexts. Additionally, sophisticated data analysis techniques, including statistical modeling and network analysis, enhance our ability to decipher complex biological interactions. Ultimately, this Special Issue seeks to illuminate the multifaceted landscape of genetic research across neuropsychiatric and other complex human diseases, paving the way for improved diagnostics and treatment strategies.

Dr. Wen Zhang
Guest Editor

Manuscript Submission Information

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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
  • complex human diseases
  • genetic research
  • omics data analysis
  • high-throughput sequencing
  • machine learning
  • disease mechanism

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Published Papers (4 papers)

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12 pages, 2683 KiB  
Article
Edaravone Attenuates Sleep Deprivation-Induced Memory Deficits by Inhibiting Oxidative Stress and Neuroinflammation in Murine Models
by Shiliang Ji, Yongchao Dong, Zixiang Wang, Ruifang Zhu, Yiguo Jiang, Shengjun Li and Xinwei Ma
Biomedicines 2025, 13(5), 1047; https://doi.org/10.3390/biomedicines13051047 - 25 Apr 2025
Viewed by 247
Abstract
Background: Sleep deprivation (SD) is a common condition affecting many people in modern life. Edaravone (Eda) is a neuroprotective drug, but whether it can improve cognitive impairment caused by SD remains unclear. Methods: Animals received oral gavage doses of Eda (10, 20, and [...] Read more.
Background: Sleep deprivation (SD) is a common condition affecting many people in modern life. Edaravone (Eda) is a neuroprotective drug, but whether it can improve cognitive impairment caused by SD remains unclear. Methods: Animals received oral gavage doses of Eda (10, 20, and 40 mg/kg) for 8 and 5 days before and during SD. Starting from the 6th day, a modified multiple platform model was used to produce SD in mice for 72 h. The Lashley III maze was used for evaluating spatial learning and memory. Malondialdehyde (MDA) in the hippocampus and serum corticosterone were assessed. Total antioxidant capacity (TAC) and the activity of the enzymes glutathione peroxidase (GPx) and superoxide dismutase (SOD) were measured. Growth-associated protein 43 (GAP-43), synapsin 1 (SYN-1), post-synaptic density-95 (PSD-95), synaptophysin (SYP), and signs of inflammation were detected using Western blotting. Results: SD caused cognitive impairment, whereas Eda pretreatment warded off such an effect. While serum corticosterone levels rose with SD as well, they decreased in SD mice that received Eda (p < 0.05). Moreover, Eda normalized the SD-induced decline in hippocampal activity of SOD and GPx, lowered MDA levels, and elevated TAC (p < 0.01). Additionally, the hippocampal levels of GAP-34, SYP, SYN-I, and PSD-95 were elevated, while IL-1β and tumor necrosis factor α (TNF-α) were lowered following Eda pretreatment (p < 0.05). Conclusions: SD caused memory impairment; however, pretreatment with Eda improved memory by upregulating synaptic proteins in the hippocampus and having anti-inflammatory and antioxidant effects. Full article
(This article belongs to the Special Issue Genetic Research on Neuropsychiatric Disorders and Complex Human Diseases)
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16 pages, 2409 KiB  
Article
Decoding Resistin Gene Polymorphisms: Implications for Lung Cancer Risk and Clinical Outcomes of Platinum-Based Chemotherapy
by Weijing Gong, Dandan Huang, Tao Zhou, Xinxin Zhu, Yifei Huang, Yongning Lv, Yu Zhang, Zhaoqian Liu, Fang Zeng and Sanlan Wu
Biomedicines 2025, 13(2), 291; https://doi.org/10.3390/biomedicines13020291 - 24 Jan 2025
Viewed by 823
Abstract
Background: Resistin (RETN), an inflammatory cytokine exhibiting multifaceted roles in cancer progression, has emerged as a plausible mediator between inflammation and oncogenesis. Prior research from our group has highlighted the pivotal role of resistin in carcinogenesis and its impact on drug responsiveness. [...] Read more.
Background: Resistin (RETN), an inflammatory cytokine exhibiting multifaceted roles in cancer progression, has emerged as a plausible mediator between inflammation and oncogenesis. Prior research from our group has highlighted the pivotal role of resistin in carcinogenesis and its impact on drug responsiveness. The present study delves into the relationship between resistin expression and genetic polymorphisms with cancer risk and clinical outcomes among lung cancer patients undergoing platinum-based chemotherapy. Methods: Immunohistochemical analysis was conducted to assess resistin expression levels in 104 tumor tissues derived from lung adenocarcinoma patients. Additionally, 498 lung cancer patients and 213 healthy controls were recruited for this study, with 467 patients undergoing at least two cycles of platinum-based chemotherapy. Unconditional logistical regression analysis was employed to evaluate the associations between RETN polymorphisms and lung cancer risk, as well as clinical outcomes. Genotyping of RETN polymorphisms (rs1862513 and rs3745367) was performed using the Sequenom MassARRAY System. Results: The findings revealed a positive correlation between resistin expression in tumor tissues and metastasis (particularly distant metastasis) and overall survival in lung adenocarcinoma. However, RETN polymorphisms were not significantly associated with overall survival in lung cancer patients. No substantial association was observed between RETN polymorphisms and lung cancer risk, chemotherapy response, or toxicities, except for rs1862513, which showed a link with severe gastrointestinal toxicity. Meta-analysis results further confirmed the absence of a significant association between RETN polymorphisms and cancer risk. Conclusions: Despite the pivotal role of resistin in carcinogenesis, only the RETN rs1862513 polymorphism emerges as a potential biomarker for gastrointestinal toxicity in lung cancer patients undergoing platinum-based chemotherapy. However, these findings necessitate validation through well-designed studies with larger sample sizes. Full article
(This article belongs to the Special Issue Genetic Research on Neuropsychiatric Disorders and Complex Human Diseases)
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14 pages, 1786 KiB  
Article
Genetic Heterogeneity in Four Probands Reveals HGSNAT, KDM6B, LMNA and WFS1 Related Neurodevelopmental Disorders
by Behjat Ul Mudassir, Mujaddid Mudassir, Jamal B. Williams and Zehra Agha
Biomedicines 2024, 12(12), 2736; https://doi.org/10.3390/biomedicines12122736 - 29 Nov 2024
Viewed by 935
Abstract
Background: Neurodevelopmental disorders of genetic etiology are a highly diverse set of congenital recurrent complications triggered by irregularities in the basic tenets of brain development. Methods: We present whole exome sequencing analysis and expression characteristics of the probands from four unrelated [...] Read more.
Background: Neurodevelopmental disorders of genetic etiology are a highly diverse set of congenital recurrent complications triggered by irregularities in the basic tenets of brain development. Methods: We present whole exome sequencing analysis and expression characteristics of the probands from four unrelated Pakistani consanguineous families with facial dysmorphism, neurodevelopmental, ophthalmic, auditory, verbal, psychiatric, behavioral, dental, and skeletal manifestations otherwise unexplained by clinical spectrum. Results: Whole exome sequencing identifies a novel, bi-allelic, missense variant in the HGSNAT gene [NM_152419.3: c.1411G > A (p. Glu471Lys) exon 14] for proband family E-1 and a rare, bi-allelic, non-frameshift variant in the KDM6B gene [NM_001348716.2: c.786_791dupACCACC (p. Pro263_Pro264dup) exon 10] for proband family E-2, and a novel, mono-allelic, missense variant in the LMNA gene [NM_170707.4: c. 1328 A > G (p. Glu443Gly) exon 8] for proband family E-3 and an ultra-rare, mono-allelic, missense variant in the WFS1 gene [NM_006005.3: c.2131G > A (p. Asp711Asn) exon 8] for proband family E-4. Protein modelling shows conformation and size modifications in mutated residues causing damage to the conserved domains expressed as neurocognitive pathology. Conclusions: The current study broadens the distinctly cultural and genetically inbred pool of the Pakistani population for harmful mutations, contributing to the ever-expanding phenotypic palette. The greatest aspirations are molecular genetic profiling and personalized treatment for individuals with complex neurological symptoms to improve their life activities. Full article
(This article belongs to the Special Issue Genetic Research on Neuropsychiatric Disorders and Complex Human Diseases)
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19 pages, 9365 KiB  
Article
Integrative Multi-Omics Analysis Reveals Critical Molecular Networks Linking Intestinal-System Diseases to Colorectal Cancer Progression
by Shiliang Ji, Haoran Hu, Ruifang Zhu, Dongkai Guo, Yujing Liu, Yang Yang, Tian Li, Chen Zou, Yiguo Jiang and Guilai Liu
Biomedicines 2024, 12(12), 2656; https://doi.org/10.3390/biomedicines12122656 - 21 Nov 2024
Viewed by 1366
Abstract
Background/Objectives: Colorectal cancer (CRC) frequently co-occurs with intestinal system diseases (ISDs), yet their molecular interplay remains poorly understood. We employed a comprehensive bioinformatics approach to elucidate shared genetic signatures and pathways between CRC and ISDs. Methods: We systematically analyzed 12 microarray [...] Read more.
Background/Objectives: Colorectal cancer (CRC) frequently co-occurs with intestinal system diseases (ISDs), yet their molecular interplay remains poorly understood. We employed a comprehensive bioinformatics approach to elucidate shared genetic signatures and pathways between CRC and ISDs. Methods: We systematically analyzed 12 microarray and RNA-seq datasets encompassing 989 samples across seven ISDs and CRC. Differentially expressed genes (DEGs) were identified using Limma and DESeq2. Functional enrichment analysis was performed using clusterProfiler. Protein–protein interaction networks were constructed via STRING and visualized with Cytoscape to identify hub genes. Clinical significance of shared genes was further assessed through survival analysis and validated by immunohistochemistry staining of 30 paired CRC–normal tissue samples. Results: Integrating bioinformatics and machine learning approaches, we uncovered 160 shared DEGs (87 upregulated, 73 downregulated), which predominantly enriched cell metabolism, immune homeostasis, gut–brain communication, and inflammation pathways. Network analysis revealed nine key hub proteins linking CRC and ISDs, with seven upregulated (CD44, MYC, IL17A, CXCL1, FCGR3A, SPP1, and IL1A) and two downregulated (CXCL12 and CCL5). Survival analysis demonstrated the prognostic potential of these shared genes, while immunohistochemistry confirmed their differential expression in CRC tissues. Conclusions: Our findings unveil potential biomarkers and therapeutic targets, providing insights into ISD-influenced CRC progression and offering a robust foundation for improved diagnostic and treatment strategies in ISD-associated CRC. Full article
(This article belongs to the Special Issue Genetic Research on Neuropsychiatric Disorders and Complex Human Diseases)
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