Human Gene最新文献

{"title":"Understanding the dysregulation of PURPL, a novel long intergenic noncoding RNA, in thyroid cancer progression","authors":"Mina Kazemzadeh ,&nbsp;Reza Safaralizadeh ,&nbsp;Amir Ali Mokhtarzadeh ,&nbsp;Mohammad Ali Hosseinpour Feizi","doi":"10.1016/j.humgen.2025.201499","DOIUrl":"10.1016/j.humgen.2025.201499","url":null,"abstract":"<div><h3>Background</h3><div>The significance of long non-coding RNAs, a new class of regulatory RNAs, is progressively emerging in the initiation, progression, and invasion of cancers, including thyroid cancer. PURPL (LINC01021) is one of the novel lincRNAs that has just been identified in a few human cancers. Considering the inadequate comprehension of PURPL expression and its alteration in thyroid cancer, the primary objective of this study was to quantitatively assess PURPL expression in thyroid tissue and to explore its dysregulation in patients with thyroid cancer for the first time.</div></div><div><h3>Materials and methods</h3><div>The Cancer Genome Atlas database was utilized to evaluate the relative expression of PURPL across various cancer types. Subsequently, quantitative real-time PCR was employed to assess PURPL expression in paired tumor and adjacent tumor-free tissue samples obtained from 30 individuals with thyroid cancer. Bioinformatics analysis was then performed to identify co-expressed genes and associated pathways with PURPL. One of the identified co-expressed genes, MDM2, was further investigated for its correlation with PURPL expression through real-time PCR. Additionally, efforts were made to correlate PURPL expression with clinicopathological features of thyroid cancer.</div></div><div><h3>Results</h3><div>Real-time PCR analysis revealed the upregulation of PURPL during tumorigenesis in thyroid cancer. However, dysregulation of PURPL did not show a significant correlation with clinical characteristics. Bioinformatics analysis identified approximately 1000 genes correlated with PURPL expression, with MDM2 exhibiting the highest positive correlation. Experimental validation through real-time PCR confirmed a positive correlation between MDM2 and PURPL expression in thyroid cancer cells. Additionally, the oncogenic CASC19 and tumor suppressor TLE5 demonstrated strong positive and negative correlations with PURPL, respectively, suggesting a complex regulatory role in thyroid cancer progression.</div></div><div><h3>Conclusion</h3><div>The significant upregulation of PURPL in thyroid cancer, along with its positive correlation with oncogenes such as MDM2, underscores the potential role of PURPL in cancer-associated pathways.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201499"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145415609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on Livni & Skorecki, “Distinguishing between Founder and Host Population mtDNA Lineages in the Ashkenazi Population”","authors":"Joseph Faith","doi":"10.1016/j.humgen.2025.201495","DOIUrl":"10.1016/j.humgen.2025.201495","url":null,"abstract":"","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201495"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145319601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of sesamol in alleviating neuroinflammation associated with Parkinson's disease","authors":"Rohini Durairaj ,&nbsp;Manjunathan Jagadeesan ,&nbsp;S. Shireen Farhana ,&nbsp;Shobana Chandrasekar ,&nbsp;Usharani Boopathy ,&nbsp;Parthiban Brindha Devi ,&nbsp;Pasiyappazham Ramasamy","doi":"10.1016/j.humgen.2025.201474","DOIUrl":"10.1016/j.humgen.2025.201474","url":null,"abstract":"<div><h3>Objectives</h3><div>A chronic progressive neurodegenerative disorder, Parkinson's disease (PD) is associated with motor impairment with elderly people. The cytokines and chemokines network are very complex and participate to balance the proinflammatory processes, apoptosis and cell existence. So, it is necessary to unravel the inflammatory process in PD. Increased nuclear factor kappa B, expression of cytokines, increased activation of microglia participate in the inflammatory process of PD. The activation of glial fibrillary acidic protein (GFAP) gene and protein results in the activation of astroglial cells which ends up with neurodegeneration and central nervous damage. Natural compounds carry a huge amount of antioxidant properties with health benefits and phenolic compounds is a natural dietary source.</div></div><div><h3>Methods</h3><div>Quantitative determination of serum CRP, immunohistochemical study was carried out along with the molecular studies such as (RT-PCR) and western blotting.</div></div><div><h3>Results</h3><div>Sesamol treatment decreased the C- Reactive protein level in serum of experimental animals. Sesamol also increased the tyrosine hydroxylase cells in rotenone-induced animals. The gene and protein expressions of NF-κB (p65), Tumor necrosis factor-α, cyclo oxygeanse-2, inducible nitric oxide synthase, interleukin-1β and GFAP were also reduced in SES treated animals.</div></div><div><h3>Conclusion</h3><div>Sesamol served as an anti-inflammatory compound in ROT-induced animal model of PD. This work mainly concentrates on the molecular mechanism of phenolic compound sesamol on rotenone induced PD.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201474"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145019246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A review on the role of miR-576 in human disorders","authors":"Alireza Soleimani ,&nbsp;Mohsen Ahmadi ,&nbsp;Mahla Sanati ,&nbsp;Hadi Adabi ,&nbsp;Soudeh Ghafouri-Fard","doi":"10.1016/j.humgen.2025.201491","DOIUrl":"10.1016/j.humgen.2025.201491","url":null,"abstract":"<div><div>MicroRNAs (miRNAs) have pivotal role in post-transcriptional gene regulation by binding to target mRNAs, resulting in their degradation or translational repression. They contribute to the pathogenesis of several disorders, including cancer, autoimmune conditions and metabolic disorders. Among these non-coding transcripts is miR-576, a miRNA with dual roles in tumorigenesis and significant participation in non-malignant conditions. Through modulation of key cellular processes such as proliferation, apoptosis, migration, and immune responses, this miRNA participates in the pathoetiology of a variety of human disorders. This manuscript aims to comprehensively review the current understanding of miR-576 in malignant and non-malignant disorders, emphasizing its mechanistic roles, clinical implications, and therapeutic potential. By integrating the current knowledge on its role, we offer insights into the dual nature of miR-576 in disease pathogenesis and discover future directions for research and therapeutic development.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201491"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of a rare synonymous beta globin variant, HBB: c.60C>T in an Afghan Family as a benign variant","authors":"Zahra Taherian-Esfahani,&nbsp;Hamideh Namazi","doi":"10.1016/j.humgen.2025.201481","DOIUrl":"10.1016/j.humgen.2025.201481","url":null,"abstract":"<div><div>Beta thalassemia is a common autosomal recessive disorder. In this study, we report a rare beta globin gene variant, <em>HBB</em>: c.60C&gt;T, identified in an Afghan Family.</div><div>Sequencing of a 30 year old pregnant woman and her children showed that this synonymous variant, when present alongside other pathogenic HBB mutations, does not affect beta globin production. In the proband, hematological findings were not consistent with a beta thalassemia minor phenotype. Although this variant has been reported in Clinvar as a variant of uncertain significance (VUS), our findings support its classification as likely benign.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201481"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Glioma in different life stages: A comparative analysis of adult and pediatric tumors","authors":"Ajia Ashraf ,&nbsp;Armeen Ashraf ,&nbsp;Lubna Khan ,&nbsp;Shahrukh Shaikh ,&nbsp;Farina Hanif","doi":"10.1016/j.humgen.2025.201476","DOIUrl":"10.1016/j.humgen.2025.201476","url":null,"abstract":"<div><div>Gliomas are one of the most common primary brain tumors and their prognosis is highly dependent on patient-specific factors. The objective of our review is to detail how age influences the epidemiology, molecular pathogenesis, prognosis, and treatment of gliomas. A literature search was conducted for adult and pediatric gliomas (PG) at Google Scholar and PubMed, with relevant keywords like gliomas, World Health Organization (WHO) classification, histology, and treatment, etc., and papers published until 2023 were reviewed. It was found that males and non-Hispanic white people are particularly at risk in both age categories. People with poor socioeconomic status are more likely to have PG. While the overall incidence of adult gliomas has been declining, glioblastoma (GBM) occurrence has been rising. The latest WHO classification of central nervous system (CNS) tumors has highlighted the molecular aberrations to further stratify adult and PG, and literature review revealed how each type has unique histological features. The first line treatment for both groups is surgery followed by adjuvant radio- and chemotherapy, although radiotherapy use for children remains controversial. PGs can also be treated with targeted therapy of the Mitogen-activated protein kinase (MAPK) pathway and currently, anti-cancer drugs are being investigated. By juxtaposing pediatric and adult gliomas, several theories can be proposed about how certain gliomas develop at specific ages, how they vary in their presentations and management, and what can be further explored to improve patient outcomes. This information is pivotal for understanding not only how age influences the development of certain mutations but also how treatment varies according to a patient's age.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201476"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145044158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regulatory Axis of circMYO9B and hsa-miR-3529-5p in modulating the breast Cancer biomarker MUC1","authors":"Farnaz Nourmohammadian Dehkordi ,&nbsp;Fatemeh Chaharlang ,&nbsp;Niosha Yahyavi ,&nbsp;Sadaf Gilanian ,&nbsp;Anosha Yahyavi kalkhoran ,&nbsp;Mohamadali Naderi ,&nbsp;Maryam Yousefi ,&nbsp;Nasrin Fattahi Dolatabadi","doi":"10.1016/j.humgen.2025.201468","DOIUrl":"10.1016/j.humgen.2025.201468","url":null,"abstract":"<div><h3>Purpose</h3><div>Breast cancer (BC) is the most prevalent and lethal cancer among women worldwide. Overexpression of the MUC1 gene is observed in approximately 40 % of BC cases. Additionally, mucin-1-derived antigens are recognized as significant serum biomarkers for BC. Identifying genetic regulators of MUC1 may reveal novel pathways for managing and treating BC. This study investigates the regulatory relationship between circMYO9B, hsa-miR-3529-5p, and MUC1 expression.</div></div><div><h3>Methods</h3><div>We utilized circAtlas, CircNet, and miRWalk databases to predict interactions between circMYO9B and hsa-miR-3529-5p and between hsa-miR-3529-5p and MUC1. RNA22 and RNAhybrid-BiBiServe2 confirmed an 82 % high-binding affinity between hsa-miR-3529-5p and MUC1. Experimental validation included RT-qPCR to quantify circMYO9B, hsa-miR-3529-5p, and MUC1 expression levels. Functional assays were performed by constructing plasmids for circMYO9B, hsa-miR-3529-5p, and MUC1, transfecting them into HEK293T cells, and conducting dual luciferase reporter assays.</div></div><div><h3>Result</h3><div>Our results demonstrate that circMYO9B interacts directly with hsa-miR-3529-5p, functioning as a sponge to regulate MUC1 expression in BC. This regulatory axis involving circMYO9B and hsa-miR-3529-5p provides insights into the molecular mechanisms underlying MUC1 dysregulation. MUC1, a key BC gene and marker, may be influenced by this interaction, emphasizing its potential as a target for therapeutic and diagnostic strategies. Subsequent cell viability assays confirmed that overexpression of miR-3529-5p significantly reduced MCF7 cell survival, suggesting an increase in apoptosis.</div></div><div><h3>Discussion</h3><div>This study provides valuable insights into the molecular mechanisms underlying MUC1 regulation and emphasizes the importance of miR-3529 and circMYO9B in modulating MUC1 expression, which may have implications for targeted therapies and diagnostic strategies in breast cancer.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201468"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145044156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Computational identification and structural characterization of deleterious non-synonymous SNPs in human IGF2","authors":"Shubhrajit Barman ,&nbsp;Senthil Kumar Ganesan","doi":"10.1016/j.humgen.2025.201508","DOIUrl":"10.1016/j.humgen.2025.201508","url":null,"abstract":"<div><h3>Background</h3><div>Insulin-like growth factor II (IGF2) is an imprinted growth-regulatory polypeptide essential for embryonic development, tissue growth, and metabolic regulation. Variants in IGF2 have been implicated in cancer and metabolic disorders, yet the structural and functional impact of most nonsynonymous single-nucleotide polymorphisms (nsSNPs) remains uncharacterized.</div></div><div><h3>Methods</h3><div>We screened IGF2 coding variants from dbSNP using multiple pathogenicity predictors (SIFT, PolyPhen-2, PANTHER, SNPs&amp;GO, Meta-SNP, PredictSNP, PMut) and structural assessment tools. Secondary structure alterations were analysed using Project HOPE, while protein–protein docking with HDOCK was performed to investigate interactions between IGF2 and IGF2R.</div></div><div><h3>Results</h3><div>Seven nsSNPs (C33R, R48L, R48C, G65D, C71R, R125H, and R125S) were consistently predicted to be deleterious. These substitutions were associated with a reduction in α-helical content and distortion of the overall secondary structure. Docking analysis further revealed that, with the exception of R48C, all variants exhibited decreased binding affinity compared to the wild-type IGF2 protein.</div></div><div><h3>Conclusions</h3><div>These seven nsSNPs represent high-priority candidates for functional validation, as computational evidence suggests potential destabilization of IGF2 structure and altered interaction with IGF2R. Our findings demonstrate the utility of in-silico pipelines for prioritizing gene variants for downstream experimental and clinical studies.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201508"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145465870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial: Application and integration of Omics data in disease biology","authors":"","doi":"10.1016/j.humgen.2025.201509","DOIUrl":"10.1016/j.humgen.2025.201509","url":null,"abstract":"","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201509"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145568394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Computational investigation of lignans as potential target for non-alcoholic fatty liver disease: Insights from network pharmacology, docking, DFT, and dynamics simulation analysis","authors":"Rajappan Chandra Satish Kumar ,&nbsp;Akash Jayaraman ,&nbsp;Ramesh Venkatachalapathy","doi":"10.1016/j.humgen.2025.201457","DOIUrl":"10.1016/j.humgen.2025.201457","url":null,"abstract":"<div><div>NAFLD is a major cause of morbidity and mortality worldwide. The present study aims to investigate the therapeutic potential of selected lignans, including 6-hydroxy enterodiol and secoisolariciresinol, against the key molecular targets involved in the pathogenesis of the disease. A network pharmacology approach was employed to elucidate the interaction between the proteins of bioactive compounds and disease targets, while docking and density functional theory (DFT) calculations were conducted to assess the electronic properties and reactivity profiles of the ligands. GO and KEGG pathway enrichment analysis was done to understand the core targets that are involved in various biological pathways and biological functions. Furthermore, dynamic validation of the stability and conformational behavior of the protein-ligand complexes under the physiological condition was done through MM-GBSA free energy calculations, Free Energy Landscape (FEL) mapping, and Principal Component Analysis (PCA). AKT1, CASP3, and IL6 exhibited highly favorable binding free energies, which range from 75.0196 to 75.2026 kcal/mol, indicating the stability and binding of the proteins. Moreover, CASP3 exhibited a low energy gap and a high electrophilicity index, underscoring its potential as an effective electron acceptor. In conclusion, the present computational study provides substantial evidence for the efficacy of a group of peptides as natural therapies for the treatment of nonalcoholic fatty liver disease.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"46 ","pages":"Article 201457"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144749703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}