Hereditas最新文献

{"title":"Mechanistic evaluation of a traditional herbal decoction in attenuating hepatic fibrosis via Nrf2/GPX4 pathway activation and ferroptosis inhibition.","authors":"Jing-Jing Liu, Xiao-Qi Zhou, Jia-Lin Zhou, Li-Jun Tong, Ling-Xiang Hu, Xiang Liu, Li-Mei Hu, Chang-Xiao Zhou, Qi Dai","doi":"10.1186/s41065-025-00471-y","DOIUrl":"10.1186/s41065-025-00471-y","url":null,"abstract":"<p><strong>Background: </strong>Hepatic fibrosis, a progressive fibrotic response to chronic liver injury, is characterized by excessive collagen deposition and impaired tissue repair. This pathological process leads to liver dysfunction and potential progression to irreversible cirrhosis or hepatocellular carcinoma. Currently, therapeutic options targeting the underlying mechanisms remain limited. Traditional Chinese medicine (TCM), particularly herbal decoctions, have demonstrated efficacy in the treatment of hepatic fibrosis, although the precise mechanisms remain insufficiently elucidated.</p><p><strong>Objective: </strong>The objective of this study is to examine the mechanistic role of a TCM herbal decoction designed to promote Qi, blood circulation, and water excretion, in modulating the Nrf2/GPX4 signaling pathway and inhibiting ferroptosis in a rat model of hepatic fibrosis.</p><p><strong>Methods: </strong>A total of 17 Sprague-Dawley rats were divided into five groups. The blank control group (Group A) comprised three rats. Hepatic fibrosis was induced in the remaining rats, which were then randomized into four groups: the untreated fibrosis (Group B), TCM-treated (Group C), TCM combined with ferroptosis inhibitor (Fer-1) (Group D), and TCM combined with Fer-1 and autophagy inhibitor (3-MA) (Group E). Groups A and B received equal volumes of normal saline. Serum and hepatic tissues were collected for analysis. Serum levels of aspartate transaminase (AST), alanine aminotransferase (ALT), tumor necrosis factor-alpha (TNF-α), malondialdehyde (MDA), and iron were measured. Liver tissues were subjected to hematoxylin and eosin staining and Masson's trichrome staining to assess pathological changes. Protein expression levels of solute carrier family 7 member 11 (SLC7A11), nuclear factor erythroid 2-related factor 2 (Nrf2), and glutathione peroxidase 4 (GPX4) were assessed using western blot analysis.</p><p><strong>Results: </strong>Group B exhibited significant deterioration compared to the control group (p < 0.05), including marked hepatic lipidosis and fibrosis surrounding the hepatic portal vein. Elevated levels of AST, ALT, Fe2+, MDA, TNF-α, and collagen volume were observed (p < 0.05), along with significantly reduced expression of GPX4, Nrf2, and SLC7A11 (p < 0.05). In contrast, Groups C, D, and E demonstrated significantly decreased levels of AST, ALT, Fe2+, MDA, TNF-α, and collagen volume (p < 0.05), accompanied by increased expression of GPX4, Nrf2, and SLC7A11 (p < 0.05) when compared to Group B.</p><p><strong>Conclusion: </strong>The herbal decoction demonstrated anti-fibrotic effects in a rat model of hepatic fibrosis, potentially through activation of the Nrf2/GPX4 signaling pathway and suppression of ferroptosis. These findings suggest a mechanistic basis for the observed efficacy of this TCM formulation and support its potential as a therapeutic candidate for hepatic fibrosis.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"100"},"PeriodicalIF":2.7,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Syndromic capillary malformation with leg length discrepancy: Parkes-Weber syndrome treated by embolization, chemotherapy and Ilizarov technique.","authors":"Ren Cai, Yifeng Han, Mao Ye, Xitao Yang, Hao Gu, Xiaojie Yue, Xiong Zhao, Xindong Fan, Dachuan Sun, Jiaxue Zhu","doi":"10.1186/s41065-025-00474-9","DOIUrl":"10.1186/s41065-025-00474-9","url":null,"abstract":"<p><p>Capillary malformations (CMs) are congenital low-flow vascular anomalies caused by dilated capillaries. Leg length discrepancy (LLD) is the condition characterized by unequal lower limb lengths, leading to functional and postural challenges. Capillary malformation with leg length discrepancy (CM-LLD) formally reveals syndrome such as Klippel-Trenaunay syndrome and Diffuse Capillary Malformation Overgrowth. In this study, we report a syndromic capillary malformation with leg length discrepancy diagnosed as Parkers-Weber Syndrome by radiology and genetic study. This study emphases on understanding the association between CM-LLD, ensuring timely genetic testing, intervention, optimizing functional outcomes, and improving quality of life for individuals with Parkes-Weber syndrome.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"99"},"PeriodicalIF":2.7,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12145613/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The potential role of biomarkers CD28 and PF4 in the pathogenesis of idiopathic pulmonary fibrosis and their impact on the prognosis: an immune microenvironment analysis.","authors":"Li Yan, Jiang-Han Li, Ai-Li Zhang, He Li, Bo Pang, De-Yang Meng, Qian Fu, Li-Juan Du, Yan Su","doi":"10.1186/s41065-025-00464-x","DOIUrl":"10.1186/s41065-025-00464-x","url":null,"abstract":"<p><strong>Background: </strong>This study aims to identify and investigate biomarkers associated with mitochondrial-related genes (MRGs) and programmed cell death-related genes (PCDRGs) that concurrently influence the progression of idiopathic pulmonary fibrosis (IPF) and to explore the underlying biological mechanisms involved.</p><p><strong>Methods: </strong>The GSE28042 and GSE27957 datasets, comprising 1,136 MRGs and 1,548 PCDRGs, were utilized in this study. Differentially expressed genes (DEGs) between the IPF and control groups were initially identified through differential expression analysis. Subsequently, key module genes closely associated with IPF samples were selected using Weighted Gene Co-expression Network Analysis (WGCNA). Intersection genes 1 and 2 were then identified by overlapping DEGs with key module genes, MRGs, and PCDRGs. Candidate genes were further selected through Spearman correlation analysis involving intersection genes 1 and 2. Additionally, biomarkers were identified, and a risk model was developed using Cox regression analysis, proportional hazards (PH) assumption testing, and machine learning methods. Patients with IPF were stratified into high- and low-risk cohorts. Finally, functional enrichment analysis, immune infiltration analysis, regulatory network construction, and reverse transcription quantitative PCR (RT-qPCR) were conducted separately to validate the findings.</p><p><strong>Results: </strong>CD28 and PF4 were identified as biomarkers, and a risk model was established. The distinct risk cohorts exhibited differences in pathways related to hemostasis, prion diseases, and other biological processes. A significant positive correlation with was observed between CD28 and native CD4 T cells, while PF4 showed a negative correlation with activated NK cells. Based on these two biomarkers, 30 miRNAs and 532 lncRNAs were predicted, resulting in the construction of a lncRNA-miRNA-biomarker network. Additionally, 11 chemicals associated with these biomarkers were identified. RT-qPCR analysis further confirmed that expression levels of CD28 and PF4 were significantly reduced in IPF samples (P < 0.05).</p><p><strong>Conclusion: </strong>The results of this study suggested that the biomarkers CD28 and PF4 might play a potential role in the pathogenesis of IPF and might have an impact on the prognosis of the disease. These findings might offer valuable insights for future treatment strategies and prognostic evaluation for patients with IPF.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"98"},"PeriodicalIF":2.7,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12144798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The bibliometric analysis of research on traditional Chinese medicine regulating gut microbiota for cancer treatment from 2014 to 2024.","authors":"Youfeng Lei, Yueqin Shan, Danfeng Zhou, Chunyan Chen","doi":"10.1186/s41065-025-00456-x","DOIUrl":"10.1186/s41065-025-00456-x","url":null,"abstract":"<p><strong>Objective: </strong>The modulation of gut microbiota by Traditional Chinese Medicine (TCM) offers a promising approach to cancer treatment. However, a comprehensive bibliometric evaluation of this emerging field is lacking.</p><p><strong>Objective: </strong>This study aimed to systematically analyze global research trends, hotspots, and future directions related to TCM regulation of gut microbiota in cancer therapy from 2014 to 2024.</p><p><strong>Methods: </strong>Publications were retrieved from the Web of Science Core Collection. Bibliometric and visual analyses were conducted using VOSviewer and CiteSpace to examine publication trends, country and institutional collaborations, core authors and journals, keyword co-occurrence, and research frontiers.</p><p><strong>Results: </strong>A total of 340 relevant articles were identified. The number of publications increased significantly after 2018, indicating growing interest in this field. China dominated the research landscape, both in productivity and institutional collaboration. Core research hotspots included \"short-chain fatty acids,\" \"tumor microenvironment,\" \"apoptosis,\" and \"immune response.\" Thematic evolution analysis highlighted a shift from general gut microbiota research to precise molecular mechanisms and targeted regulation. Emerging topics such as \"metabolomics\" and \"immune checkpoint blockade\" suggest future directions.</p><p><strong>Conclusion: </strong>This study provides a comprehensive overview of the current research landscape on TCM-modulated gut microbiota in cancer treatment. By identifying core contributors, research hotspots, and frontiers, it offers valuable guidance for future investigations and interdisciplinary collaborations in this promising field.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"94"},"PeriodicalIF":2.7,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LncRNA FLG-AS1 inhibits esophageal squamous cell carcinoma by regulating the miR-23a-3p/HOXD10 axis.","authors":"Zhigao Zhang, Fucheng Zhang, Chuan Xue, Xiaoling Song, Yaojun Wang","doi":"10.1186/s41065-025-00461-0","DOIUrl":"10.1186/s41065-025-00461-0","url":null,"abstract":"<p><strong>Background: </strong>Esophageal cancer (EC) is the ninth most common cancer worldwide that kills about 300,000 people each year. Esophageal squamous cell carcinoma (ESCC) is the main type of EC. Long non-coding RNAs (lncRNAs) have been proven to be severely dysregulated in EC, but the functions of more lncRNAs still need to be explored.</p><p><strong>Methods: </strong>To explore the new molecular mechanism of ESCC development, the online biology databases (GEO, lncRNASNP2, Starbase, TargetScan) were employed to investigate the novel pathways implicated. To assess the expression levels of FLG-AS1, miR-23a-3p, and associated genes, we utilized RT-qPCR. The expression of HOXD10 was evaluated through western blotting analysis. To elucidate the regulatory interactions among FLG-AS1, miR-23a-3p, and HOXD10, a combination of dual luciferase assays, silencing techniques, and overexpression studies were conducted. The migratory and invasive capabilities of the cells were examined using a transwell apparatus. Cell viability was measured employing the CCK-8 assay, while apoptosis was detected through Annexin V/PI double staining methodology. Concentrations of glucose and lactic acid were determined utilizing appropriate biochemical kits.</p><p><strong>Results: </strong>FLG-AS1 and HOXD10 exhibited low expression levels in ESCC cells, whereas miR-23a-3p was found to be highly expressed. FLG-AS1 was observed to reduce the free level of miR-23a-3p by directly binding to it, and in turn, miR-23a-3p inhibited the expression of HOXD10 by targeting its mRNA. The overexpression of FLG-AS1 and HOXD10 resulted in the attenuation of anaerobic glycolysis, as well as a decrease in the migratory and invasive capabilities of ESCC cells, effectively reversing their resistance to cisplatin. Conversely, the upregulation of miR-23a-3p yielded opposing effects. Furthermore, ESCC patients exhibiting elevated levels of FLG-AS1 and HOXD10, alongside reduced expression of miR-23a-3p, demonstrated a significantly higher 5-year survival rate post-surgery.</p><p><strong>Conclusion: </strong>FLG-AS1 effectively inhibits the progression of ESCC and counters cisplatin resistance through the modulation of the miR-23a-3p/HOXD10 axis. This is a new mechanism affecting ESCC and will provide new ideas for the targeted therapy of ESCC.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"96"},"PeriodicalIF":2.7,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of CD36 as a contributor in inflammatory response of rheumatoid arthritis and screening of feasible bioactive drugs targeting it.","authors":"Dan Xuan, Xiaowan Wang, Dandan Feng, Li Wang, Yonghui Xia","doi":"10.1186/s41065-025-00450-3","DOIUrl":"10.1186/s41065-025-00450-3","url":null,"abstract":"<p><strong>Background: </strong>Rheumatoid arthritis (RA) is a chronic inflammatory disease. This study aims to identify candidate therapeutic targets and promising drugs for RA.</p><p><strong>Methods: </strong>RA-related microarray datasets (GSE77298 and GSE206848) and inflammatory genes (IRGs) were downloaded from Gene Expression Omnibus database and GeneCards database, respectively. After removing batch effects, differentially expressed genes (DEGs) were screened using filtering criteria of P < 0.05 and |log2(fold change)|> 1. Differentially expressed IRGs (DE-IRGs) were then obtained. Key gene modules were identified by weighted gene co-expression network analysis (WGCNA), and the hub genes were then identified from the results of protein-protein interaction (PPI) network analysis, WGCNA and DE-IRGs, and validated by a external dataset GSE93272. Receiver operating characteristic (ROC) curve was used to evaluate the diagnostic effect of the predicted hub genes. In addition, drug prediction was performed through virtual screening. mRNA and protein expression of cluster of differentiation 36 (CD36) were detected by RT-qPCR and Western blot. After RA fibroblast-like synovial cells (RA-FLS) were treated with piceatannol and epicatechin, cell proliferation was detected by CCK-8 assay, and flow cytometry was used to detect cell cycle and apoptosis, and the secretion of inflammatory cytokines was detected by enzyme-linked immunosorbent assay.</p><p><strong>Results: </strong>Three hub genes were finally identified, including CD36, perilipin 1 and lipoprotein lipase. CD36 was further identified as a candidate biomarker and therapeutic target for RA, which had relatively good diagnostic efficacy for RA. Compared with fibroblast-like synovial cells (FLS), mRNA and protein expression levels of CD36 in RA-FLS were significantly up-regulated (P < 0.05). Piceatannol and epicatechin had good binding affinity with CD36 (docking score < -5 kcal/mol), and piceatannol treatment or epicatechin treatment inhibited the proliferation and inflammation of RA-FLS and induced cell cycle arrest and apoptosis (P < 0.05).</p><p><strong>Conclusion: </strong>CD36 is a potential biomarker and therapeutic target associated with synovial inflammation of RA, and piceatannol and epicatechin are potential natural drugs for RA treatment. Overall, these findings provide new insights into the clinical diagnosis and treatment of RA.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"95"},"PeriodicalIF":2.7,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PDE3B and HBB are key prognostic biomarkers driving cell proliferation and regulating immune microenvironment in breast cancer.","authors":"Bolong Yin, Xiangrong Luo, Xuebo Yan, Hui Shen, Jianping Jiang","doi":"10.1186/s41065-025-00470-z","DOIUrl":"10.1186/s41065-025-00470-z","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is a heterogeneous malignancy with diverse tumor subpopulations and complex tumor-immune interactions. This study explores the prognostic and functional roles of PDE3B and HBB in breast cancer, focusing on their contributions to proliferation and immune microenvironment modulation.</p><p><strong>Methods: </strong>Single-cell RNA sequencing (scRNA-seq) and TCGA data were analyzed to identify malignant subpopulations and prognostic genes. Differential gene expression, KEGG enrichment, LASSO regression, and Kaplan-Meier survival analyses were performed. Immune infiltration was assessed using EPIC deconvolution. Functional validation included qRT-PCR, IHC, Western blot, and proliferation assays in MDA-MB-231 cells.</p><p><strong>Results: </strong>Malignant cell type 3 exhibited the highest proliferative potential. PDE3B and HBB were identified as prognostic markers, strongly associated with poor survival and immune cell infiltration. Overexpression of these genes enhanced proliferation, while their knockout suppressed it.</p><p><strong>Conclusion: </strong>PDE3B and HBB drive breast cancer proliferation and immune modulation, making them promising biomarkers and therapeutic targets. Further research should assess their potential in targeted therapies.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"97"},"PeriodicalIF":2.7,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering the role of Hashimoto's Thyroiditis-related key genes in thyroid cancer via detailed in silico analysis followed by the experimental validation.","authors":"Mostafa A Abdel-Maksoud, Taghreed N Almana, Saeedah Almutair, Abdulaziz Alamri, Ibrahim A Saleh, Mohamed Y Zaky, Wahidah H Al-Qahtani, Yasir Hameed","doi":"10.1186/s41065-025-00429-0","DOIUrl":"10.1186/s41065-025-00429-0","url":null,"abstract":"<p><strong>Background: </strong>Thyroid cancer, characterized by significant genetic and epigenetic alterations, remains a critical focus of molecular oncology. This study investigates eight key genes (BRAF, EIF1 AX, FOXE1, KRAS, PDGFRA, PIK3 CA, PTEN, and TERT) that are deregulated in Hashimoto's Thyroiditis and their roles in thyroid cancer.</p><p><strong>Methods: </strong>Cell culture, nucleic acid extraction, RT-qPCR, bisulfite sequencing, and various in silico tools and databases.</p><p><strong>Results: </strong>Expression analysis using RT-qPCR revealed significant (p-value < 0.05) down-regulation of BRAF, EIF1 AX, FOXE1, KRAS, PDGFRA, PIK3 CA, PTEN, and TERT genes in thyroid cancer cell lines compared to controls, with ROC curves indicating high diagnostic accuracy (AUC 0.93-0.99). Bisulfite sequencing demonstrated increased promoter methylation across all eight genes in cancerous samples, suggesting epigenetic silencing as a regulatory mechanism. Validation through UALCAN, OncoDB, and HPA confirmed reduced gene and protein expression in additional thyroid cancer cohorts. Genetic alteration analysis via cBioPortal showed prevalent BRAF mutations, whereas other genes exhibited fewer alterations. Kaplan-Meier survival analysis linked lower expression of BRAF and PIK3 CA to poorer overall survival. Correlation studies using TISIDB and TISCH2 databases highlighted associations between gene expression and immune modulation, revealing significant correlations with immune cell infiltration and diverse immune subtypes. Moreover, miRNA-mRNA network analysis identified hsa-mir- 628 - 5p as a critical regulator targeting these genes. The impact of BRAF overexpression on SW579 cells was assessed through various functional assays. Overexpression of BRAF resulted in reduced cell proliferation, colony formation, and wound healing, which may reflect context-dependent effects. While BRAF is typically oncogenic, its overexpression may lead to cellular stress or negative feedback mechanisms that impair these processes.</p><p><strong>Conclusion: </strong>This comprehensive analysis elucidates the complex regulatory landscape of these genes in thyroid cancer, emphasizing the significant role of epigenetic modifications and providing insights into potential diagnostic and therapeutic avenues.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"91"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of EPHB4 as a potential causal gene and therapeutic target for endometriosis using Mendelian randomization.","authors":"Shaohua Ling, Delong Xie, Lifang Huang, Siqi Huang, Chun Tian, Liying Huang, Rong Chen, Li Qin, Xiao Qin","doi":"10.1186/s41065-025-00457-w","DOIUrl":"10.1186/s41065-025-00457-w","url":null,"abstract":"<p><strong>Objectives: </strong>Endometriosis is a common condition among women, characterized by chronic pain and infertility, presenting significant challenges for clinicians. This study aims to identify potential druggable targets to offer new therapeutic approaches.</p><p><strong>Method: </strong>We utilized the summary-data-based Mendelian randomization (SMR) method to investigate the causal relationships between druggable genes that encode plasma proteins and endometriosis. The data sources included the deCODE database, the UKB-PPP, and the FinnGen database. Colocalization analysis was used to identify whether candidate genes and the disease share a common causal genetic variant. Finally, we measured the protein abundance and relative mRNA expression levels of targeted druggable genes in the plasma and peripheral blood mononuclear cells (PBMCs) of endometriosis patients using ELISA and RT-qPCR.</p><p><strong>Results: </strong>By integrating the results of SMR and colocalization analyses, we found that EPHB4 is strongly associated with the risk of endometriosis, with higher levels of EPHB4 correlating with an increased risk of the condition (P_FDR < 0.05, PPH4 = 0.99). RSPO3 is moderately associated, with higher levels of RSPO3 correlating with an increased risk of endometriosis (P_FDR < 0.001, PPH4 = 0.78). CD109, SAA1, SAA2, FSHB, and SEZ6L2 are weakly associated with endometriosis, with higher levels of FSHB and SEZ6L2 correlating with an increased risk of endometriosis, and higher levels of CD109, SAA1, and SAA2 correlating with a decreased risk of endometriosis (P_FDR < 0.05, PPH4 < 0.6). ELISA and RT-qPCR analyses showed that the EPHB4 protein abundance in plasma and mRNA expression levels in PBMCs were significantly higher in the endometriosis group compared to the control group (P-value < 0.05).</p><p><strong>Conclusions: </strong>We found that the druggable genes EPHB4, CD109, SAA1, SAA2, FSHB, and SEZ6L2 may be associated with the pathogenesis of endometriosis and are potential therapeutic targets for drug treatment. However, this preliminary study is limited by sample size and population diversity, requiring further validation to confirm the reliability of these findings.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"92"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic and prognostic value of miR-146b-5p in acute pancreatitis.","authors":"Ying Liao, Weiwei Zhang, Zhenfei Huang, Liu Yang, Mingjin Lu","doi":"10.1186/s41065-025-00466-9","DOIUrl":"10.1186/s41065-025-00466-9","url":null,"abstract":"<p><strong>Objective: </strong>MicroRNAs hold great potential as biomarkers for assessing the progression of acute pancreatitis (AP). This study aimed to explore the value of miR-146b-5p in the diagnosis and prognosis of AP patients.</p><p><strong>Methods: </strong>110 AP patients were included and divided into 40 severe AP (SAP) patients and 70 non-SAP patients based on disease severity. Serum miR-146b-5p levels were measured using RT-qPCR. The diagnostic value of miR-146b-5p was evaluated utilizing ROC curves. Pearson correlation coefficient was employed to analyze the correlations between APACHEII, BISAP, and MCTSI scores and miR-146b-5p levels. The AP cell model was constructed by treating AR42J cells with deoxycholic acid (DCA), the proliferative capacity of cells was measured with CCK-8, apoptosis was measured by flow cytometry, and IL-6 and IL-8 protein levels were analyzed by ELISA.</p><p><strong>Results: </strong>Serum miR-146b-5p levels were decreased in SAP and unfavorable patients. Serum miR-146b-5p was able to effectively differentiate between SAP and non-SAP patients, and also effectively differentiate between unfavorable and favorable patients. MiR-146b-5p levels were significantly negatively correlated with APACHEII score (r=-0.6676), BISAP score (r=-0.5696), and MCTSI score (r=-0.5857). Furthermore, in the AP cell model, miR-146b-5p expression was down-regulated, proliferative capacity was diminished, apoptosis was increased, and IL-6 and IL-8 levels were elevated, but overexpression of miR-146b-5p partially reversed these changes.</p><p><strong>Conclusion: </strong>miR-146b-5p expression is down-regulated in the serum of SAP patients and cells, and it has a good diagnostic effect. It may be a potential biomarker and therapeutic target for AP.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"162 1","pages":"93"},"PeriodicalIF":2.7,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144191734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}