Human Gene最新文献

{"title":"Investigation of lithium treatment during pregnancy on miR124 gene expression of offspring rats","authors":"Zeynab Askari ,&nbsp;Parisa Hasanein ,&nbsp;Alishir Haidari ,&nbsp;Seyed Mohsen Saleh ,&nbsp;Saeedeh Askarian","doi":"10.1016/j.humgen.2025.201429","DOIUrl":"10.1016/j.humgen.2025.201429","url":null,"abstract":"<div><div>Lithium, recognized as a mood stabilizer, is widely used in the treatment of bipolar disorder. Discontinuation of this medication during pregnancy can have serious consequences, leading to severe mood fluctuations such as mania or depression in the mother. Despite the advantage effects of lithium, its molecular impacts on neonates are still under investigation. The aim of this study is to examine the expression levels of the miR-124 gene in the offspring of rats whose mothers were exposed to lithium during pregnancy. In this experimental study, female rat received a daily dose of 30 mg/kg of lithium carbonate through their drinking water. The offsprings were divided into control and experimental groups and were maintained until the age of two months. The hippocampus and serum from the offspring were isolated for the analysis of target gene expression. Total RNA was extracted and cDNA was synthesized. The expression of miR-124 was estimated using qRT-PCR, using the ddCt and Pfaffl methods, and compared with the control group. The expression of miR-124 decreased in the hippocampal tissue of neonates whose mothers received lithium during pregnancy, while an increase in miR-124 expression was observed in serum samples. No significant distinction between the two evaluation methods was observed, even though the Pfaffl method claimed greater precision. The increase in miR-124 expression in serum and its decrease in hippocampal tissue may demonstrate complex changes in gene expression regulation and physiological responses, during stress, inflammation or metabolic changes. Concurrent analysis of gene expression in both tissue and serum could provide valuable insights into disease status and the body's biological responses, enabling scientists to gain a better understanding of the treatment process.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201429"},"PeriodicalIF":0.5,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144270523","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":"Role of the TLR4 pathway in the development of chronic suppurative otitis media","authors":"Jagadisha Tavarekere Venkataravanappa ,&nbsp;Venkateswarlu Raavi ,&nbsp;Sharath Balakrishna ,&nbsp;Prasad Kothegala Chendrashekaraiah ,&nbsp;Sridevi Prabhakara Gowda ,&nbsp;Ashok Dhayalan ,&nbsp;Arun Kumar Sreeramulu ,&nbsp;Saraswathi Saraswathi ,&nbsp;Austin Richard Surendranath","doi":"10.1016/j.humgen.2025.201433","DOIUrl":"10.1016/j.humgen.2025.201433","url":null,"abstract":"<div><div>Chronic Suppurative Otitis Media (CSOM) is a debilitating chronic ear condition characterized by inflammation and infection in the middle ear. Recent research has shed light on the crucial role of Toll-Like Receptor 4 (TLR4) in mediating inflammation in CSOM and its association with disease pathogenesis. This review explores the role of the TLR4 pathway in CSOM, encompassing its gene expression, single-nucleotide polymorphisms, and inflammatory cytokines. Additionally, we discussed the role of the TLR4 pathway in other chronic inflammatory diseases, providing insights into potential therapeutic targets. While the involvement of TLR4 in CSOM and related conditions is well-documented, there remain substantial gaps in our knowledge of the underlying molecular mechanisms. This review not only highlights the current state of knowledge but also emphasizes the areas for future research in the field of otology and immunology.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201433"},"PeriodicalIF":0.5,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212371","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":"Investigating molecular aspects of SARS-CoV-2 neurological manifestations, a systems biology approach","authors":"Maryam Mozafar ,&nbsp;Seyed Amir Mirmotalebisohi ,&nbsp;Ahmad Reza Shahverdi ,&nbsp;Hakimeh Zali","doi":"10.1016/j.humgen.2025.201430","DOIUrl":"10.1016/j.humgen.2025.201430","url":null,"abstract":"<div><h3>Objectives</h3><div>Amid the COVID-19 pandemic, reported neurological symptoms and potential syndromes such as ischemic stroke, seizure, and encephalitis highlight the neurological impact of SARS-CoV-2. We employed a systems biology approach to analyze omics transcriptional data, exploring the molecular mechanisms underlying neurological complications in COVID-19.</div></div><div><h3>Methods</h3><div>We retrieved post-mortem brain data of COVID-19 patients from the gene expression omnibus (GEO) dataset and constructed protein-protein interaction (PPI) networks for differentially expressed genes (DEGs) in the brain cortex and choroid plexus. Topologically crucial genes were identified, and MCODE clusters were analyzed for functional enrichment using the STRING database. Genes related to neurological symptoms (headache, seizure, stroke, meningitis, encephalitis) were extracted from the Comparative Toxicogenomics Database (CTD), and their associations with MCODE clusters were assessed via Fisher's exact test. Crucial gene interactions with FDA-approved drugs were also investigated.</div></div><div><h3>Results</h3><div>We identified a cluster of heat shock protein (HSP) genes (HSP90AA1, HSPA1A, HSPA1B, HSPB1, HSPH1, HSPA5, DNAJB1, FKBP5) significantly correlated with all neurological manifestations. KEGG pathway enrichment showed associations with immune processes, neurodegenerative diseases (Parkinson's, Alzheimer's, Huntington's), virus-related pathways (Influenza A, Epstein-Barr, Measles), and pathways activated in viral infections. FKBP5, a key Hsp90 co-chaperone, interacts most with drugs that affect the nervous system in our drug-gene network.</div></div><div><h3>Conclusions</h3><div>Shedding light on the molecular mechanisms behind COVID-19 neurological manifestations and possible drugs could pave the way for better managing future neurotrophic viruses.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201430"},"PeriodicalIF":0.5,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144230651","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":"The synergistic effect of HIF-1α, VEGFA and VEGFR2 gene polymorphisms in the pathogenesis of acute myeloid leukemia","authors":"Mayuri Goswami ,&nbsp;Shantipriya Kakati ,&nbsp;Jina Bhattacharyya ,&nbsp;Natasha Kashyap ,&nbsp;Snigdha Jyoti Das ,&nbsp;Mafidul Islam ,&nbsp;Sujoy Bose ,&nbsp;Purabi Deka Bose","doi":"10.1016/j.humgen.2025.201432","DOIUrl":"10.1016/j.humgen.2025.201432","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aims to analyze polymorphisms and the differential mRNA expression of some hypoxia-angiogenesis pathway genes in acute myeloid leukemia (AML) cases and correlate these findings with disease pathogenesis.</div></div><div><h3>Patients and methods</h3><div>The study included 64 de novo AML cases with mean age of 29.45 ± 16.49 years and sex ratio of 1.46:1.00; along with 64 age and sex-matched controls. With specific standardized primers and Taq polymerase enzyme, the targeted genes were amplified using PCR. Further RFLP analysis was done using specific restriction endonuclease enzymes to detect polymorphisms. Semi-quantitative real-time PCR was performed for gene expression studies at mRNA level.</div></div><div><h3>Results</h3><div>Higher prevalence of CT and TT genotypes of HIF-1α rs11549465 SNP, CA and AA genotypes of VEGFA rs699947 SNP and AT and TT genotypes of VEGFR2 rs1870377 SNP were found in cases as compared to control. The co-occurrence of T allele of HIF-1α rs11549465, A allele of VEGFA rs699947 and T allele of VEGFR2 rs1870377 SNPs were found to be common in cases indicating higher risk of the disease. mRNA expression analysis revealed upregulation of HIF-1α, VEGFA and VEGFR2 by 9.92 ± 7.28, 9.05 ± 5.87 and 2.11 ± 0.48 fold respectively in patients. Significant correlation (<em>p</em> &lt; 0.01) was found between the expression of HIF-1α and VEGFA genes. Correlation analysis between genotypes and mRNA expression profiles detected the role of T allele of HIF-1α rs11549465 SNP, A allele of VEGFA rs699947 SNP and AT genotype of VEGFR2 rs1870377 SNP in the overexpression of respective genes.</div></div><div><h3>Conclusion</h3><div>Synergistic association of T allele of HIF-1α rs11549465, A allele of VEGFA rs699947 and AT genotype of VEGFR2 rs1870377 SNPs have been identified that might promote the pathogenesis of AML.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201432"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184404","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":"Unveiling a rare genetic enigma: A father-son duo with alagille syndrome and a novel pathogenic JAG1 variant – Case report and literature review","authors":"Hemlata Wadhwani Bhatia ,&nbsp;Firoz Ahmad ,&nbsp;Sapna Sandal ,&nbsp;Raj Shingala ,&nbsp;Mukesh Kumar ,&nbsp;Amit Yadav ,&nbsp;Anindyajit Banerjee ,&nbsp;Pooja Chaudhary ,&nbsp;Spandan Chaudhary ,&nbsp;Neeraj Arora","doi":"10.1016/j.humgen.2025.201428","DOIUrl":"10.1016/j.humgen.2025.201428","url":null,"abstract":"<div><div>Alagille syndrome (ALGS) is a rare multisystem disorder primarily caused by alterations in the <em>JAG1</em> gene and, less frequently, in <em>NOTCH2</em>. The syndrome exhibits variable phenotypic expression, making diagnosis challenging. We report a novel heterozygous frameshift deletion variant, c.1019del (p.Cys340Serfs*72), in exon 8 of <em>JAG1</em>, identified in a father-son duo. This variant, located within the evolutionarily conserved EGF-like repeat domain, is predicted to be pathogenic based on its absence in population databases, in silico predictions, and clinical correlation. The father exhibited chronic cholestasis, ductal paucity, and atypical ocular findings, while the son displayed dysmorphic facies, skeletal anomalies, and hearing loss. This case highlights distinct phenotypic variations within the same family despite sharing the same <em>JAG1</em> variant. Notably, features such as keratoconus, KF ring, tessellated fundus, hyperemic disc, CTEV, and inner ear anomalies have not been previously documented. It underscores the critical role of deep phenotyping, thorough family history re-evaluation, and early genetic diagnosis in ensuring timely intervention.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201428"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144514196","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":"Investigating expression pattern of SPATA3-AS1 and SPATA42 lncRNAs in azoospermia","authors":"Nashwah Jabbar Kadhim Muttwaqi,&nbsp;Mohammed Ismael Ibrahim Jebur,&nbsp;Azeez Hasan Saleh Saleh,&nbsp;Reza Safaralizadeh","doi":"10.1016/j.humgen.2025.201431","DOIUrl":"10.1016/j.humgen.2025.201431","url":null,"abstract":"<div><div>Background: A large number of couples throughout the world struggle with the health problems of male infertility. One of the most common reasons for male infertility is the absence of sperm in the semen specimens, resulting in azoospermia. lncRNAs regulate spermatogenic cell development. However, the aberrant expression of lncRNAs linked to the failure of sperm production and their molecular processes is poorly understood. Materials and Methods: A total of 76 Iranian men with azoospermia and 36 healthy controls were selected in this case-control study. Blood samples were taken to isolate serum and extract total RNA, which was later used to synthesize cDNA. The qRT-PCR technique was assessed to investigate gene expression of SPATA42 and SPATA3-AS1 lncRNAs in azoospermia. Results: Based on the data, SPATA42 and SPATA3-AS1 appeared to have significantly low expression in azoospermia patients; however, only SPATA42 showed a significant biomarker role. Furthermore, hormonal analysis illustrated that LH and FSH had increased levels in male patients; meanwhile, testosterone levels were decreased. According to Spearman correlation analysis, SPATA42 expression correlated negatively with FSH and LH levels but positively with testosterone levels. For the SPATA3-AS1 gene, however, FSH and testosterone had a negative and positive correlation with the expression level. Conclusion: With low expression levels in serum samples, SPATA42 can have a potential biomarker role in diagnosing azoospermia.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201431"},"PeriodicalIF":0.5,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144203171","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":"Functional and structural characterization of COVID-19 risk-associated exonic SNPs and identification of novel therapeutic sites: An in silico analysis","authors":"Marcos Jessé Abrahão Silva ,&nbsp;Sebastião Kauã de Sousa Bispo ,&nbsp;Rebecca Lobato Marinho ,&nbsp;Eliete Costa da Cruz ,&nbsp;Thiago Pinto Brasil ,&nbsp;Caroliny Soares Silva ,&nbsp;Yan Corrêa Rodrigues ,&nbsp;Cristiane Cunha Frota ,&nbsp;Diana da Costa Lobato ,&nbsp;Lilian Cristina Santos Sinfrônio da Silva ,&nbsp;Everaldina Cordeiro dos Santos ,&nbsp;Ana Judith Pires Garcia ,&nbsp;Luana Nepomuceno Gondim Costa Lima","doi":"10.1016/j.humgen.2025.201426","DOIUrl":"10.1016/j.humgen.2025.201426","url":null,"abstract":"<div><div>The COVID-19 pandemic has highlighted the critical need for effective therapeutic strategies against viral infections, prompting research on the functional characterization of risk-associated single nucleotide polymorphisms (SNPs). This study aimed to analyze exonic SNPs that influence individual susceptibility to COVID-19 through an <em>in silico</em> approach. Using a comprehensive methodology, SNPs were retrieved from databases such as Science Direct and PubMed, categorized into intronic, exonic, UTR, splice site, and intergenic types, with a focus on exonic SNPs. Functional analyses were performed using various bioinformatics tools to assess the effects of synonymous and non-synonymous SNPs on mRNA structure, protein stability, protein function, and potential therapeutic sites. The results revealed significant insights into the impact of specific SNPs on COVID-19 susceptibility. For example, the synonymous SNP rs12252 of <em>IFITM3</em> was found to have a moderate impact on mRNA structure and binding affinity for microRNAs, while non-synonymous SNPs exhibited varying degrees of functional consequences, with eight variants predicted to be deleterious (with emphasis on the <em>TYK2</em> SNP rs34536443 that was predicted to be deleterious in all analyzes). This approach facilitated the identification of novel therapeutic targets. Finally, this research highlights the importance of understanding genetic variations in developing personalized medicine approaches for COVID-19.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201426"},"PeriodicalIF":0.5,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170675","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":"Superoxide dismutase gene expression and promoter methylation as biomarkers for type 2 diabetes mellitus","authors":"Ashwin Kumar Shukla ,&nbsp;Komal Awasthi ,&nbsp;Kauser Usman ,&nbsp;Monisha Banerjee","doi":"10.1016/j.humgen.2025.201427","DOIUrl":"10.1016/j.humgen.2025.201427","url":null,"abstract":"<div><h3>Background</h3><div>Type 2 diabetes mellitus (T2DM) is associated with oxidative stress and altered gene expression, particularly the antioxidant defense genes named as <em>SOD1</em> and <em>SOD2</em>. These enzymes serve a significant function in mitigating oxidative damage, and their regulation may be significantly influenced by epigenetic modifications, including DNA methylation.</div></div><div><h3>Objective</h3><div>This study aimed to investigate the promoter methylation status and expression levels of <em>SOD1</em> and <em>SOD2</em> genes in T2DM patients compared to healthy controls, to explore their potential as molecular biomarkers for T2DM.</div></div><div><h3>Methodology</h3><div>A total of 84 T2DM patients and 60 healthy controls were enrolled. Methylation-specific PCR (MSP) was applied to investigate the promoter methylation status of <em>SOD1</em> and <em>SOD2</em> genes, while real-time PCR was utilized to evaluate the expression levels of these genes in whole blood samples. Statistical analyses were performed to compare results between the T2DM group and the control group.</div></div><div><h3>Results</h3><div>The study revealed significant downregulation of both <em>SOD1</em> and <em>SOD2</em> gene expression in T2DM patients compared to controls, with <em>p</em>-values of 0.001 for both genes. Methylation analysis indicated increased promoter methylation of <em>SOD2</em> in T2DM subjects, whereas <em>SOD1</em> did not show any significant difference in the methylation status.</div></div><div><h3>Conclusion</h3><div>Our findings highlighted the critical role of reduced <em>SOD1</em> and <em>SOD2</em> expression in oxidative stress associated with T2DM. Although <em>SOD2</em> downregulation was observed, the lack of significant differences in methylation frequency between patients and controls indicated that it may not serve as a definitive biomarker by itself. Therefore, the potential influence of methylation on <em>SOD2</em> transcription warrants further investigation. Understanding these mechanisms could lead to novel therapeutic strategies targeting oxidative stress in diabetes management and at the same time improve our knowledge regarding the role of epigenetic factors in metabolic diseases.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201427"},"PeriodicalIF":0.5,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170316","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":"Comprehensive analysis of Slc15a3 and Myo1f gene expression in renal carcinoma: Insights from RNA-seq data and validation via qRT-PCR","authors":"Mahya Nazari ,&nbsp;Seyed Abdolhamid Angaji ,&nbsp;Behnaz Beikzadeh ,&nbsp;Behzad Narouie ,&nbsp;Mahdi Mohammadi","doi":"10.1016/j.humgen.2025.201422","DOIUrl":"10.1016/j.humgen.2025.201422","url":null,"abstract":"<div><h3>Background</h3><div>Early detection of renal cell carcinoma (RCC) remains a challenge. Identification of novel biomarkers may improve the diagnosis, prognosis, and treatment of RCC. This study aimed to identify potential novel biomarkers for RCC by analyzing gene expression profiles by RNA sequencing (RNA-seq) and validating the results by laboratory tests.</div></div><div><h3>Materials and methods</h3><div>Data were retrieved from NCBI GEO datasets. After data processing and analysis, two genes with differential expression in RCC were selected: Slc15a3 and Myo1f. Blood samples were then collected from 26 RCC patients and 24 healthy controls. Following the extraction of RNA and the synthesis of cDNA, real-time polymerase chain reaction (PCR) was conducted. The expression of genes was evaluated and analyzed using GraphPad Prism, with a statistical significance threshold of <em>P</em> &lt; 0.05.</div></div><div><h3>Results</h3><div>In silico analysis and RNA-seq data revealed that Slc15a3 and Myo1f were differentially expressed in RCC. Real-time PCR results showed a significant increase in Myo1f expression in RCC patients (<em>P</em> &lt; 0.05), suggesting its potential as a novel biomarker. However, Slc15a3 did not show significant expression differences between RCC patients and controls (<em>P</em> &gt; 0.05), indicating a limited biomarker potential.</div></div><div><h3>Conclusion</h3><div>This study suggests that Myo1f maybe a promising biomarker for RCC.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201422"},"PeriodicalIF":0.5,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170676","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":"Roles of microRNAs carried by exosomes in glioblastoma microenvironment","authors":"Ayşe Keskin Günay ,&nbsp;Zeynep Demirel ,&nbsp;Nilay Dinçkurt ,&nbsp;Esranur Kopal ,&nbsp;Pınar Obakan Yerlikaya","doi":"10.1016/j.humgen.2025.201423","DOIUrl":"10.1016/j.humgen.2025.201423","url":null,"abstract":"<div><div>Glioblastoma (GBM) is an extremely aggressive type of glioma affecting the central nervous system (CNS). Patient survival is typically less than one year and decreases with various mutations, deletions, and amplifications. The treatment of GBM is usually challenging since drug candidates that can cross the blood-brain barrier with low side effects are limited. The initial treatment for GBM involves surgical resection, followed by radiotherapy and administration of temozolomide (TMZ) as the primary adjuvant therapy. Following TMZ treatment, most patients experience tumor recurrence due to TMZ resistance within the first year. Given the intratumoral heterogeneity, elucidating the tumor microenvironment (TME) is paramount. Exosomes, a class of extracellular vesicles (EVs) released by cells into TME, are responsible for intercellular communication. The content of exosomes, originating from early endosomes and then from late endosomes, is exceptionally rich in oncogenic proteins, angiogenic factors, coding, and non-coding RNA, such as microRNAs (miRNAs). Exosomal miRNAs are critical in driving GBM pathogenesis. They contribute to disease progression, metastasis, cancer development, angiogenesis, and drug resistance. Additionally, exosomal miRNAs influence the cell migration, proliferation, and differentiation of glioma cells, making them potential biomarkers for diagnosis, prognosis, and therapeutic response prediction. This review discusses exosomal miRNA functions in GBM progression and highlights their potential clinical applications. Also, this review summarizes available databases for identifying exosome-associated miRNAs and exploring their functional roles in GBM.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"45 ","pages":"Article 201423"},"PeriodicalIF":0.5,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144123230","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}