Hereditas最新文献

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Association between bone mineral density and scoliosis: a two-sample mendelian randomization study in european populations. 骨密度与脊柱侧凸之间的关系:欧洲人群的两样本孟德尔随机化研究。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-31 DOI: 10.1186/s41065-024-00352-w
Fangjun Yang, Jiantao Wen
{"title":"Association between bone mineral density and scoliosis: a two-sample mendelian randomization study in european populations.","authors":"Fangjun Yang, Jiantao Wen","doi":"10.1186/s41065-024-00352-w","DOIUrl":"10.1186/s41065-024-00352-w","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have shown that bone mineral density (BMD) has a certain impact on scoliosis. However, up to now, there is no clear evidence that there is a causal association between the two. The aim of this study is to investigate whether there is a causal association between BMD at different body positions and scoliosis by two-sample Mendelian randomization (MR).</p><p><strong>Methods: </strong>Genetic variants (SNPS) strongly associated with BMD (total body BMD (TB-BMD), lumbar spine BMD (LS-BMD), femoral neck BMD (FN-BMD), heel BMD (HE-BMD), and forearm BMD (FA-BMD)) were extracted from GEFOS and genome-wide association analysis (GWAS) databases SNPs) were used as instrumental variables (IVs). Scoliosis was also selected from the Finnish database as the outcome. Inverse variance weighting (IVW) method was used as the main analysis method, and multiple sensitivity analysis was performed by combining weighted median, MR-Egger, MR Multi-effect residuals and outliers.</p><p><strong>Results: </strong>IVW results showed that TB-BMD (OR = 0.83, 95%CI: 0.66-1.55 P = 0.13), LS-BMD (OR = 0.72, 95%CI: 0.52-0.99, P = 0.04), FN-BMD (OR = 0.74, 95%CI: 0.50-1.09, P = 0.13), FA-BMD (OR = 0.95,95%CI: 0.70-1.28, P = 0.75), HE-BMD (OR = 0.91, 95%CI: 0.77-1.08, P = 0.29). Sensitivity analyses showed no evidence of pleiotropy or heterogeneity (p > 0.05) (MR-PRESSO and Cochrane). The results were further validated by leave-one-out test and MR-Egger intercept, which confirmed the robustness of the study results.</p><p><strong>Conclusion: </strong>In conclusion, the present study demonstrates that the causal role of genetic prediction of scoliosis increases with decreasing lumbar BMD. There was no evidence that BMD at the remaining sites has a significant causal effect on scoliosis. Our results suggest that the lumbar spine BMD should be routinely measured in the population at high risk of scoliosis. If osteoporosis occurs, appropriate treatment should be given to reduce the incidence of scoliosis.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"57"},"PeriodicalIF":2.7,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11687161/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142907175","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}
引用次数: 0
Genetic insights into therapeutic targets for gout: evidence from a multi-omics mendelian randomization study. 痛风治疗靶点的遗传洞察:来自多组学孟德尔随机化研究的证据。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-30 DOI: 10.1186/s41065-024-00362-8
Mingyuan Fan, Zhangjun Yun, Jiushu Yuan, Sai Zhang, Hongyan Xie, Dingyi Lu, Haipo Yuan, Hong Gao
{"title":"Genetic insights into therapeutic targets for gout: evidence from a multi-omics mendelian randomization study.","authors":"Mingyuan Fan, Zhangjun Yun, Jiushu Yuan, Sai Zhang, Hongyan Xie, Dingyi Lu, Haipo Yuan, Hong Gao","doi":"10.1186/s41065-024-00362-8","DOIUrl":"10.1186/s41065-024-00362-8","url":null,"abstract":"<p><strong>Background: </strong>Considering that the treatment of gout is poor, we performed a Mendelian randomization (MR) study to identify candidate biomarkers and therapeutic targets for gout.</p><p><strong>Methods: </strong>A drug-targeted MR study was performed for gout by integrating the gout genome-wide association studies (GWAS) summary data and cis expression quantitative trait loci of 2,633 druggable genes from multiple cohorts. Summary data-based Mendelian randomization (SMR) analyses based on transcript and protein levels were further implemented to validate the reliability of the identified potential therapeutic targets for gout. Phenome-wide MR (Phe-MR) analysis was conducted in 1403 diseases to investigate incidental side effects of potential therapeutic targets for gout.</p><p><strong>Results: </strong>Eight potential therapeutic targets (ALDH3B1, FCGR2B, IL2RB, NRBP1, RCE1, SLC7A7, SUMF1, THBS3) for gout were identified in the discovery cohort using MR analysis. Replication analysis and meta-analysis implemented in the replication cohort validated the robustness of the MR findings (P < 0.05). Evidence from the SMR analysis (P < 0.05) further strengthened the reliability of the 8 potential therapeutic targets for gout also revealed that high levels of ALDH3B1 reduced the gout risk possibly modified by the methylation site cg25402137. SMR analysis (P < 0.05) at the protein level added emphasis on the impact of the risk genes NRBP1 and SUMF1 on gout. Phe-MR analysis indicated significant causality between 7 gout causal genes and 45 diseases.</p><p><strong>Conclusion: </strong>This study identified several biomarkers associated with gout risk, providing new insights into the etiology of gout and promising targets for the development of therapeutic agents.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"56"},"PeriodicalIF":2.7,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11684267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902886","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}
引用次数: 0
Knockdown of IGF2BP2 overcomes cisplatin-resistance in lung cancer through downregulating Spon2 gene. IGF2BP2下调通过下调Spon2基因克服肺癌顺铂耐药。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-28 DOI: 10.1186/s41065-024-00360-w
Shilei Zhang, Ting Dou, Hong Li, Hongfang Yu, Wei Zhang, Liping Sun, Jingwen Yang, Zhenfei Wang, Hao Yang
{"title":"Knockdown of IGF2BP2 overcomes cisplatin-resistance in lung cancer through downregulating Spon2 gene.","authors":"Shilei Zhang, Ting Dou, Hong Li, Hongfang Yu, Wei Zhang, Liping Sun, Jingwen Yang, Zhenfei Wang, Hao Yang","doi":"10.1186/s41065-024-00360-w","DOIUrl":"10.1186/s41065-024-00360-w","url":null,"abstract":"<p><strong>Background: </strong>Cisplatin (DDP) resistance has long posed a challenge in the clinical treatment of lung cancer (LC). Insulin-like growth factor 2 binding protein 2 (IGF2BP2) has been identified as an oncogenic factor in LC, whereas its specific role in DDP resistance in LC remains unclear.</p><p><strong>Results: </strong>In this study, we investigated the role of IGF2BP2 on DDP resistance in DDP-resistant A549 cells (A549/DDP) in vitro and in a DDP-resistant lung tumor-bearing mouse model in vivo. Additionally, methylated RNA immunoprecipitation sequencing (MeRIP-seq) was conducted to identify the potential mRNAs regulated by IGF2BP2, an N6-methyladenosine (m6A) regulator, in the tumor tissues of mice. Compared to normal tissues, IGF2BP2 levels were increased in LC tissues and in relapsed/resistant LC tissues. Most importantly, IGF2BP2 levels were significantly higher in relapsed/resistant LC tissues than in LC tissues. Significantly, knockdown of IGF2BP2 or DDP treatment inhibited A549 cell viability, migration, and cell cycle progression. Consistently, DDP treatment suppressed the viability and migration and triggered cell cycle arrest in A549/DDP cells in vitro, as well as reduced tumor volume and weight of A549/DDP tumor-bearing mice; meanwhile, the combination of DDP and IGF2BP2 siRNA further significantly inhibited A549/DDP cell growth in vitro and in vivo compared to DDP treatment alone. Furthermore, MeRIP-seq data showed that IGF2BP2 downregulation remarkably elevated m6A levels of spondin 2 (Spon2) and reduced mRNA levels of Spon2 in tumor tissues from A549 tumor-bearing mice. Meanwhile, the combination of DDP and IGF2BP2 siRNA notably reduced Spon2 levels, as well as inhibited the viability and induced apoptosis in A549/DDP cells; however, these effects were reversed by Spon2 overexpression.</p><p><strong>Conclusion: </strong>Collectively, downregulation of IGF2BP2 could overcome DDP resistance in LC through declining the Spon2 gene expression in an m6A-dependent manner. These results may provide a new strategy for overcoming DDP resistance in LC.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"55"},"PeriodicalIF":2.7,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11681704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894040","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}
引用次数: 0
Atorvastatin inhibits glioma glycolysis and immune escape by modulating the miR-125a-5p/TXLNA axis. 阿托伐他汀通过调节miR-125a-5p/TXLNA轴抑制胶质瘤糖酵解和免疫逃逸。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-26 DOI: 10.1186/s41065-024-00349-5
Kang Gao, Tao Zhou, YingChun Yin, XiaoJie Sun, HePing Jiang, TangYue Li
{"title":"Atorvastatin inhibits glioma glycolysis and immune escape by modulating the miR-125a-5p/TXLNA axis.","authors":"Kang Gao, Tao Zhou, YingChun Yin, XiaoJie Sun, HePing Jiang, TangYue Li","doi":"10.1186/s41065-024-00349-5","DOIUrl":"10.1186/s41065-024-00349-5","url":null,"abstract":"<p><strong>Background: </strong>Conventional treatments, including surgery, radiotherapy and chemotherapy, have many limitations in the prognosis of glioma patients. Atorvastatin (ATOR) has a significant inhibitory effect on glioma malignancy. Thus, ATOR may play a key role in the search for new drugs for the effective treatment of gliomas.</p><p><strong>Methods: </strong>U87 cells were treated with different doses of ATOR and transfected. Viability was assessed using MTT, proliferative ability was determined using the colony formation test, Bax and Bcl-2 were identified using Western blot, apoptosis was identified using flow cytometry, and U87 cell migration and invasion were detected using the Transwell assay. Glucose uptake, lactate secretion, and ATP production in U87 cell culture medium were quantified. The positive rates of IFN-γ and TNF-α in CD8T were measured through flow cytometry. Subcutaneous injection of U87 cells was carried out to construct an in vivo mouse model of gliom, followed by HE staining to assess the effects of ATOR and miR-125a-5p on tumor development.</p><p><strong>Results: </strong>ATOR blocked the viability, proliferation, migration, and invasion of U87 cells through the miR-125a-5p/TXLNA axis, and suppressed glycolysis and immune escape of glioma cells. Furthermore, overexpressing miR-125a-5p enhanced the anti-tumor effect of ATOR in vivo.</p><p><strong>Conclusion: </strong>ATOR blocks glioma progression by modulating the miR-125a-5p/TXLNA axis, further demonstrating that ATOR provides an effective therapeutic target for the treatment of glioma.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"54"},"PeriodicalIF":2.7,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894039","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}
引用次数: 0
Inhibition of microRNA-660-5p decreases breast cancer progression through direct targeting of TMEM41B. 通过直接靶向TMEM41B抑制microRNA-660-5p可减少乳腺癌进展。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-21 DOI: 10.1186/s41065-024-00357-5
Valeria Villarreal-García, José Roberto Estupiñan-Jiménez, Vianey Gonzalez-Villasana, Pablo E Vivas-Mejía, Marienid Flores-Colón, Irma Estefanía Ancira-Moreno, Patricio Adrián Zapata-Morín, Claudia Altamirano-Torres, José Manuel Vázquez-Guillen, Cristina Rodríguez-Padilla, Recep Bayraktar, Mohamed H Rashed, Cristina Ivan, Gabriel Lopez-Berestein, Diana Reséndez-Pérez
{"title":"Inhibition of microRNA-660-5p decreases breast cancer progression through direct targeting of TMEM41B.","authors":"Valeria Villarreal-García, José Roberto Estupiñan-Jiménez, Vianey Gonzalez-Villasana, Pablo E Vivas-Mejía, Marienid Flores-Colón, Irma Estefanía Ancira-Moreno, Patricio Adrián Zapata-Morín, Claudia Altamirano-Torres, José Manuel Vázquez-Guillen, Cristina Rodríguez-Padilla, Recep Bayraktar, Mohamed H Rashed, Cristina Ivan, Gabriel Lopez-Berestein, Diana Reséndez-Pérez","doi":"10.1186/s41065-024-00357-5","DOIUrl":"10.1186/s41065-024-00357-5","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the most prevalent cancer among women worldwide. Most breast cancer-related deaths result from metastasis and drug resistance. Novel therapies are imperative for targeting metastatic and drug-resistant breast cancer cells. Accumulating evidence suggests that dysregulated microRNAs (miRNAs) promote breast cancer progression, metastasis, and drug resistance. Compared with healthy breast tissue, miR-660-5p is notably overexpressed in breast cancer tumor tissues. However, the downstream effectors of miR-660-5p in breast cancer cells have not been fully elucidated. Our aim was to investigate the role of miR-660-5p in breast cancer cell proliferation, migration, invasion, and angiogenesis and to identify its potential targets.</p><p><strong>Results: </strong>Our findings revealed significant upregulation of miR-660-5p in MDA-MB-231 and MCF-7 cells compared with MCF-10 A cells. Furthermore, inhibiting miR-660-5p led to notable decreases in the proliferation, migration, and invasion of breast cancer cells, as well as angiogenesis, in HUVEC cells. Through bioinformatics analysis, we identified 15 potential targets of miR-660-5p. We validated TMEM41B as a direct target of miR-660-5p via Western blot and dual-luciferase reporter assays.</p><p><strong>Conclusions: </strong>Our study highlights the upregulation and involvement of miR-660-5p in breast cancer cell proliferation, migration, invasion, and angiogenesis. Additionally, we identified TMEM41B as a direct target of miR-660-5p in breast cancer cells.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"53"},"PeriodicalIF":2.7,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871950","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}
引用次数: 0
A novel risk model consisting of nine platelet-related gene signatures for predicting prognosis, immune features and drug sensitivity in glioma. 由9个血小板相关基因特征组成的新型风险模型可用于预测胶质瘤的预后、免疫特征和药物敏感性。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-20 DOI: 10.1186/s41065-024-00355-7
Sanlin Wei, Junke Zhou, Bin Dong
{"title":"A novel risk model consisting of nine platelet-related gene signatures for predicting prognosis, immune features and drug sensitivity in glioma.","authors":"Sanlin Wei, Junke Zhou, Bin Dong","doi":"10.1186/s41065-024-00355-7","DOIUrl":"10.1186/s41065-024-00355-7","url":null,"abstract":"<p><strong>Background: </strong>Glioma is a malignancy with challenging clinical treatment and poor prognosis. Platelets are closely associated with tumor growth, propagation, invasion, and angiogenesis. However, the role of platelet-related genes in glioma treatment and prognosis remains unclear.</p><p><strong>Results: </strong>A prognostic risk model was established using nine platelet-related prognostic signature genes (CAPG, CLIC1, GLB1, GNG12, KIF20A, PDIA4, SULF2, TAGLN2, and WEE1), and the risk score of samples were calculated. Subsequently, the glioma samples were divided into high- and low-risk groups based on the median values of risk scores. scRNA-seq analysis revealed that the prognostic genes were primarily located in astrocytes and natural killer cells. The immune infiltration proportions of most immune cells differed significantly between high- and low-risk groups. Moreover, we found AZD7762 as a potential candidate for glioma treatment.</p><p><strong>Conclusion: </strong>Nine platelet-related prognostic genes identified as prognostic signatures for glioma were closely associated with the TME and may aid in directing the clinical treatment and prognosis of gliomas.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"52"},"PeriodicalIF":2.7,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871946","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}
引用次数: 0
Causal association between metabolites and age-related macular degeneration: a bidirectional two-sample mendelian randomization study. 代谢物与年龄相关性黄斑变性之间的因果关系:一项双向双样本孟德尔随机研究。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-20 DOI: 10.1186/s41065-024-00356-6
Zhen-Yu Liu, Hang Zhang, Xiu-Li Sun, Jian-Ying Liu
{"title":"Causal association between metabolites and age-related macular degeneration: a bidirectional two-sample mendelian randomization study.","authors":"Zhen-Yu Liu, Hang Zhang, Xiu-Li Sun, Jian-Ying Liu","doi":"10.1186/s41065-024-00356-6","DOIUrl":"10.1186/s41065-024-00356-6","url":null,"abstract":"<p><strong>Background: </strong>Age-related macular degeneration (AMD) is the leading cause of visual impairment in the elderly population. Accumulating evidence has revealed the possible association between metabolites and AMD. This study aimed to assess the effect of plasma metabolites on AMD and its two subtypes using a bidirectional two-sample Mendelian randomization approach.</p><p><strong>Methods: </strong>The causality between plasma metabolites and AMD was assessed by a bidirectional two-sample Mendelian randomization (MR) analysis using the genome-wide association studies (GWAS) summary statistics of 1400 genetically determined metabolites (GDMs) and AMD. For this MR analysis, inverse variance weighted (IVW) was used as the primary method, with weighted median, MR-Egger, weighted mode, and simple mode as supplementary methods to examine the causality. MR-Egger intercept, Cochran's Q, and MR-PRESSO test were employed to evaluate possible pleiotropy and heterogeneity.</p><p><strong>Results: </strong>The results of IVW showed significant causal associations between 13 GDMs and AMD. 1-stearoyl-GPE (18:0), androstenediol (3β,17β) monosulfate, stearoyl sphingomyelin (d18:1/18:0), xylose, and X-11,850 exhibited a protective effect on AMD, while gulonate and mannonate increased the risk of AMD. 1-stearoyl-GPE (18:0) and X-11,850 exhibited protective effects on dry AMD. DHEAS, 1-stearoyl-GPE (18:0), 5α-androstan-3β,17β-diol disulfate, xylose, androstenediol (3β,17β) monosulfate, and N2-acetyl, N6, N6-dimethyllysine exhibited a protective effect on wet AMD, while succinimide, 16a-hydroxy DHEA 3-sulfate, and X-13,553 increased the risk of wet AMD. Horizontal pleiotropy and heterogeneity did not distort the causal estimates. In the reverse MR analysis, AMD reduced the androstenediol (3β,17β) monosulfate level, and increased the stearoyl sphingomyelin(d18:1/18:0) level.</p><p><strong>Conclusion: </strong>This study supported the effect of plasma metabolites on AMD, providing novel insights for clinical diagnosis and prevention strategy.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"51"},"PeriodicalIF":2.7,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11662531/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871948","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}
引用次数: 0
Investigating the clinical significance of OAS family genes in breast cancer: an in vitro and in silico study. 探讨OAS家族基因在乳腺癌中的临床意义:体外和计算机研究。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-12-05 DOI: 10.1186/s41065-024-00353-9
Jinjun Lu, Lu Yang, Xinghai Yang, Bin Chen, Zheqi Liu
{"title":"Investigating the clinical significance of OAS family genes in breast cancer: an in vitro and in silico study.","authors":"Jinjun Lu, Lu Yang, Xinghai Yang, Bin Chen, Zheqi Liu","doi":"10.1186/s41065-024-00353-9","DOIUrl":"10.1186/s41065-024-00353-9","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is the most common malignancy among women worldwide, characterized by complex molecular and cellular heterogeneity. Despite advances in diagnosis and treatment, there is an urgent need to identify reliable biomarkers and therapeutic targets to improve early detection and personalized therapy. The OAS (2'-5'-oligoadenylate synthetase) family genes, known for their roles in antiviral immunity, have emerged as potential regulators in cancer biology. This study aimed to explore the diagnostic and functional relevance of OAS family genes in breast cancer.</p><p><strong>Methodology: </strong>Breast cancer cell lines and controls were cultured under specific conditions, and DNA and RNA were extracted for downstream analyses. RT-qPCR, bisulfite sequencing, and Western blotting were employed to assess gene expression, promoter methylation, and knockdown efficiency of OAS family genes. Functional assays, including CCK-8, colony formation, and wound healing, evaluated cellular behaviors, while bioinformatics tools (UALCAN, GEPIA, HPA, OncoDB, cBioPortal, and others) validated findings and explored correlations with clinical data.</p><p><strong>Results: </strong>The OAS family genes (OAS1, OAS2, OAS3, and OASL) were found to be significantly upregulated in breast cancer cell lines and tissues compared to normal controls. This overexpression was strongly associated with reduced promoter methylation. Receiver operating characteristic (ROC) analysis demonstrated high diagnostic accuracy, with area under the curve (AUC) values exceeding 0.93 for all four genes. Increased OAS expression correlated with advanced cancer stages and poor overall survival in breast cancer patients. Functional analysis revealed their involvement in critical biological processes, including immune modulation and oncogenic pathways. Silencing OAS genes in breast cancer cells significantly inhibited cell proliferation and colony formation, while unexpectedly enhancing migratory capacity. Additionally, correlations with immune cell infiltration, molecular subtypes, and drug sensitivity highlighted their potential roles in the tumor microenvironment and therapeutic response.</p><p><strong>Conclusion: </strong>The findings of this study established OAS family genes as potential biomarkers and key players in breast cancer progression, offering promise as diagnostic biomarkers and therapeutic targets to address unmet clinical needs.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"50"},"PeriodicalIF":2.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780016","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}
引用次数: 0
Identification of immune-related mitochondrial metabolic disorder genes in septic shock using bioinformatics and machine learning. 利用生物信息学和机器学习鉴定感染性休克中免疫相关线粒体代谢紊乱基因。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-11-28 DOI: 10.1186/s41065-024-00350-y
Yu-Hui Cui, Chun-Rong Wu, Li-Ou Huang, Dan Xu, Jian-Guo Tang
{"title":"Identification of immune-related mitochondrial metabolic disorder genes in septic shock using bioinformatics and machine learning.","authors":"Yu-Hui Cui, Chun-Rong Wu, Li-Ou Huang, Dan Xu, Jian-Guo Tang","doi":"10.1186/s41065-024-00350-y","DOIUrl":"10.1186/s41065-024-00350-y","url":null,"abstract":"<p><strong>Purpose: </strong>Mitochondria are involved in septic shock and inflammatory response syndrome, which severely affects the life security of patients. It is necessary to recognize and explore the immune-mitochondrial genes in septic shock.</p><p><strong>Methods: </strong>The GSE57065 dataset was acquired from the Gene Expression Omnibus (GEO) database and filtered by limma and the weighted correlation network analysis (WGCNA) to identify mitochondrial-related differentially expressed genes (MitoDEGs) in septic shock. The function of MitoDEGs was analyzed using the Gene Ontology (GO) analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG), and Gene Set Enrichment Analysis (GSEA), respectively. The Protein-Protein Interaction (PPI) network composed of MitoDEGs was established using Cytoscape. Support Vector Machine Recursive Feature Elimination (SVM-RFE), Random Forest (RF), and Least Absolute Shrinkage and Selection Operator (LASSO) were used to identify diagnostic MitoDEGs, which were validated using receiver operating characteristic (ROC) analysis and Quantitative Real-time Reverse Transcription Polymerase Chain Reaction (qRT-PCR). Furthermore, the infiltration of immunocytes was analyzed using CIBERSORT, and the correlation between diagnostic MitoDEGs and immunocytes was explored using Spearman.</p><p><strong>Results: </strong>A total of 44 MitoDEGs were filtered, and functional enrichment analysis showed they were associated with mitochondrial function, and the PPI network had 457 nodes and 547 edges. Four diagnostic genes, MitoDEGs, PGS1, C6orf136, THEM4, and EPHX2, were identified by three machine learning algorithms, and qRT-PCR results obtained similar expression levels as bioinformatics analysis. Furthermore, the diagnostic model constructed by the diagnostic genes had fine diagnostic efficacy. Immunocyte infiltration analysis showed that activated immunocytes were abundant and correlated with hub genes, with neutrophils accounting for the largest proportion in septic shock.</p><p><strong>Conclusions: </strong>In this study, we recognized four immune-mitochondrial key genes (PGS1, C6orf136, THEM4, and EPHX2) in septic shock and designed a novel gene diagnosis model that provided a new and meaningful way for the diagnosis of septic shock.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"49"},"PeriodicalIF":2.7,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750606","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}
引用次数: 0
Erianin inhibits the progression of DDP-resistant lung adenocarcinoma by regulating the Wnt/β-catenin pathway and activating the caspase-3 for apoptosis in vitro and in vivo. 在体外和体内,Erianin通过调节Wnt/β-catenin通路和激活caspase-3促进细胞凋亡,抑制耐DDP肺腺癌的进展。
IF 2.7 3区 生物学
Hereditas Pub Date : 2024-11-27 DOI: 10.1186/s41065-024-00351-x
Lingxue Tang, Yiling Ruan, Beibei Wang, Mingjun Zhang, Jie Xue, Tong Wang
{"title":"Erianin inhibits the progression of DDP-resistant lung adenocarcinoma by regulating the Wnt/β-catenin pathway and activating the caspase-3 for apoptosis in vitro and in vivo.","authors":"Lingxue Tang, Yiling Ruan, Beibei Wang, Mingjun Zhang, Jie Xue, Tong Wang","doi":"10.1186/s41065-024-00351-x","DOIUrl":"10.1186/s41065-024-00351-x","url":null,"abstract":"<p><strong>Background: </strong>Platinum-based chemotherapy is one of the main treatments for lung adenocarcinoma (LUAD). However, the toxic side effects and drug resistance of chemotherapeutic drugs on normal cells are still a thorny problem in clinical treatment. Dendrobium is one of the three largest genera of Orchidaceous family, which has ornamental and medicinal value. Dendrobium is mainly distributed in the tropics and subtropics of South Asia, Oceania and other regions, with 1547 species of Dendrobium currently known. In China, \"Shi hu\" and \"Tie pi shi hu\" are well-known traditional medicines and have been included in the Chinese Pharmacopoeia (Editorial Board of Chinese Pharmacopoeia, 2020). Erianin is a natural product isolated from Dendrobium and is considered as a potential anticancer molecule due to its remarkable anti-tumor effects through various mechanisms, among which induced cancer cell apoptosis, inhibited invasion and migration. This study preliminarily explored the mechanism of Erianin inhibiting the progression of cisplatin (DDP) resistant LUAD in vivo and in vitro.</p><p><strong>Methods: </strong>The effect of Erianin on the proliferation of DDP-resistant LUAD cells was detected by CCK-8 assay, wound healing assay and cloning assay. Transwell assay was used to evaluate the effect of Erianin on cell invasion and migration. The changes of cell cycle and apoptosis were detected by flow cytometry and TUNEL assay. Finally, the effects of Erianin on cell function and signaling pathway-related protein expression in vivo and in vitro were examined based on the enrichment analysis.</p><p><strong>Results: </strong>Erianin could inhibit the proliferation, invasion and migration, induce apoptosis, altered cell cycle of DDP-resistant LUAD cells, and reverse the resistance to DDP. Western blotting results showed that Erianin exerted its anti-tumor effects by regulating the Wnt/β-catenin cascade in DDP-resistant LUAD cells.</p><p><strong>Conclusion: </strong>Erianin may exerted its anti-tumor effect in DDP-resistant LUAD cells by regulating the Wnt3/β-Catenin/Survivin/Bcl-2/Caspase-3/Cyclin D1 axis.</p>","PeriodicalId":12862,"journal":{"name":"Hereditas","volume":"161 1","pages":"48"},"PeriodicalIF":2.7,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739254","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}
引用次数: 0
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