Jianguo Liu, Zhi Wang, Xiaoyan Tian, Bingbin Xie, Ke Liu
{"title":"ETS1 Promotes Aerobic Glycolysis and Growth in Head and Neck Squamous Cell Carcinoma by Targeting RRAS2.","authors":"Jianguo Liu, Zhi Wang, Xiaoyan Tian, Bingbin Xie, Ke Liu","doi":"10.1007/s10528-024-10996-y","DOIUrl":"https://doi.org/10.1007/s10528-024-10996-y","url":null,"abstract":"<p><p>Head and neck squamous cell carcinoma (HNSCC) is a prevalent malignancy with a five-year survival rate below 50%, highlighting the urgent need for novel therapeutic targets. This study explores the role of the small GTPase RRAS2 in HNSCC progression and its regulation of glycolysis. Analysis of data from the TCGA and GTEx databases revealed that RRAS2 is significantly upregulated in HNSCC tissues and is associated with poorer overall patient survival. Functional experiments demonstrated that silencing RRAS2 in HNSCC cell lines inhibits glycolytic activity and cell proliferation while promoting apoptosis, whereas overexpression of RRAS2 enhances glycolysis and cell growth. Additionally, bioinformatics and experimental approaches identified the transcription factor ETS1 as an upstream regulator of RRAS2. ETS1 binds to the RRAS2 promoter, facilitating its transcription and contributing to metabolic reprogramming in HNSCC cells. Rescue experiments confirmed that the ETS1-RRAS2 axis is crucial for maintaining the glycolytic phenotype and proliferative capacity of HNSCC cells. These findings suggest that the ETS1-RRAS2 pathway plays a critical role in HNSCC progression and metabolic adaptation, positioning RRAS2 as a potential therapeutic target for improving patient outcomes.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142805696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vahid Amirhassani, Bashdar Mahmud Hussen, Solat Eslami, Arezou Sayad, Soudeh Ghafouri-Fard
{"title":"Reduced Expression of Oxidative Stress-Related lncRNAs LINC-PINT and SNHG5 in Schizophrenia: Implications for Biomarker Development.","authors":"Vahid Amirhassani, Bashdar Mahmud Hussen, Solat Eslami, Arezou Sayad, Soudeh Ghafouri-Fard","doi":"10.1007/s10528-024-10986-0","DOIUrl":"https://doi.org/10.1007/s10528-024-10986-0","url":null,"abstract":"<p><p>Schizophrenia is a mental condition that impairs several aspects of brain function and behavior. Recent investigations highlighted abnormal function of numerous genes in this context. Notably, genes that affect oxidative stress and neuron damage were the focus of several studies. In an attempt to find a biomarker that can be quantified in the peripheral blood, we assessed blood expression of three lncRNAs that were associated with these processes in patients with schizophrenia and matched controls. We observed a statistically significant downregulation of SNHG5 in the patient group compared to healthy controls, with P-values of < 0.0001, 0.0008, and 0.003 in total, male, and female patients, respectively. LINC-PINT was also found to be down-regulated in all comparisons between patients and controls with P-values of < 0.0001, < 0.0001 and = 0.01, in total, male, and female patients, respectively. However, statistical analyses disclosed no notable difference in the expression of TP53TG1 between study subgroups. Most notably, LINC-PINT and SNHG5 could discriminate between patients and controls with acceptable AUC and specificity values. Cumulatively, the results of this study propose down-regulation of LINC-PINT and SNHG5 as a possible peripheral indicator of the presence of schizophrenia.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hui Dong, Hui Zhang, Lei Cai, Quanyi Ye, Heping Wang, Bo Liu, Wenhu Zhang, Junxin Li
{"title":"Inflammatory Signaling Induces Mitochondrial Dysfunction and Neuronal Death in Traumatic Brain Injury via Downregulation of OXPHOS Genes.","authors":"Hui Dong, Hui Zhang, Lei Cai, Quanyi Ye, Heping Wang, Bo Liu, Wenhu Zhang, Junxin Li","doi":"10.1007/s10528-024-10980-6","DOIUrl":"https://doi.org/10.1007/s10528-024-10980-6","url":null,"abstract":"<p><p>Traumatic brain injury (TBI) is a major cause of neurological dysfunction and disability. This study aimed to investigate the transcriptomic changes and the functional consequences in TBI, focusing on the interplay between inflammation and mitochondrial impairment. Brain tissue samples from TBI patients and healthy controls were subjected to RNA-sequencing analysis. Mouse hippocampal HT-22 cells were treated with inflammatory cytokine and the PGC-1α activator ZLN005. Mitochondrial function, oxidative stress, and apoptosis were assessed using Seahorse respirometry, electron microscopy, flow cytometry, and molecular assays. A TBI mouse model was established to evaluate the therapeutic effects of ZLN005. Transcriptome profiling revealed downregulation of mitochondrial oxidative phosphorylation (OXPHOS) genes, particularly those encoded by the mitochondrial genome, along with enrichment of neurodegenerative pathways in TBI patients. Concomitantly, pro-inflammatory signaling pathways showed upregulation. In vitro studies demonstrated that inflammatory cytokine TNF-α treatment impaired mitochondrial respiration, induced oxidative stress and apoptosis in HT-22 cells, which could be rescued by ZLN005-mediated PGC-1α activation and restoration of OXPHOS gene expression. Administration of ZLN005 in the TBI mouse model alleviated neuronal cell death, preserved mitochondrial integrity, normalized OXPHOS gene levels in brain tissues, and improved cognitive function. This study uncovers a mechanistic link between inflammation-induced downregulation of mitochondrial OXPHOS genes and neuronal damage in TBI. Targeting this pathway by activating PGC-1α represents a potential therapeutic strategy for TBI.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuxuan Fang, Nan Xu, Jiacheng Shen, Hongyi Chen, Guoqing Li
{"title":"Exploration of the Regulatory Network of Programmed Cell Death Genes in Rheumatoid Arthritis Based on Blood-Derived circRNA Transcriptome Information and Single-Cell Multi-omics Data.","authors":"Yuxuan Fang, Nan Xu, Jiacheng Shen, Hongyi Chen, Guoqing Li","doi":"10.1007/s10528-024-10989-x","DOIUrl":"https://doi.org/10.1007/s10528-024-10989-x","url":null,"abstract":"<p><p>Programmed cell death (PCD) and circular RNA (circRNA) have been found to involve in the pathogenesis of rheumatoid arthritis (RA). The aim of this study was to explore PCD mechanisms and gene regulatory networks in RA. RA related to circRNA, mRNA and single-cell data sets were obtained from the GEO database. The limma package was used to screen differentially expressed circRNA and differentially expressed genes (DEGs) of RA. The PCD gene set from literature was intersected with the DEGs of RA to obtain PCD-related DEGs of RA. The ENCORI database was used to predict and construct a competing endogenous RNAs (ceRNA) regulatory network to obtain key circRNAs and PCD-related DEGs. Hub genes were identified from the key PCD-related DEGs in the ceRNA regulatory network through LASSO regression, and a diagnostic model was constructed based on these hub genes. The expression of hub genes in various cells and stages was analyzed using single-cell datasets. Finally, the expression of key circRNAs and hub genes in peripheral blood of RA patients and healthy individuals was verified by PCR. In this study, a total of 71 differential circRNAs and 221 DEGs in RA were obtained, and 23 PCD-related DEGs were identified. Through ceRNA regulatory network, three key circRNAs (hsa_circ_0001241, hsa_circ_0089761, and hsa_circ_0001654) and four hub PCD-related DEGs. Among them, TXN and RRAGD were highly expressed, and PARP1 and TXNIP were lowly expressed in RA. Single-cell analysis revealed that these genes were significantly differentially expressed in myeloid cell subpopulation. PCR results indicated that among the 7 key factors, the expression of hsa_circ_0001241, hsa_circ_0089761, TXN, and RRAGD in RA was consistent with the results of bioinformatics analysis. Hsa_circ_0001241, hsa_circ_0089761, TXN and RRAGD may be potential biomarkers for RA, and their interactions may have significant implications for the pathology of RA.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142798916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Geice Ribeiro da Silva, Isis Gomes de Brito Souza, Fábia de Mello Pereira, Bruno de Almeida Souza, Maria Teresa do Rêgo Lopes, Francisco Prosdocimi, Paul Bentzen, Fábio Mendonça Diniz
{"title":"The Mitochondrial Genome of Melipona fasciculata (Apidae, Meliponini): Genome Organization and Comparative Analyses, Phylogenetic Implications and Divergence Time Estimations.","authors":"Geice Ribeiro da Silva, Isis Gomes de Brito Souza, Fábia de Mello Pereira, Bruno de Almeida Souza, Maria Teresa do Rêgo Lopes, Francisco Prosdocimi, Paul Bentzen, Fábio Mendonça Diniz","doi":"10.1007/s10528-024-10991-3","DOIUrl":"https://doi.org/10.1007/s10528-024-10991-3","url":null,"abstract":"<p><p>The native stingless bee Melipona fasciculata is economically and ecologically important to the Brazilian Northeast, providing a sustainable source of income to family farmers and being considered an effective pollinator in most ecosystems and crops. This study describes, for the first time, the mitogenome of the species and its phylogenetic position. The mitochondrial genome was sequenced using a MiSeq Sequencer (Illumina Inc.) and compared with other GenBank bee mitogenomes. The length of the mitochondrial DNA, excluding most of the control region, is 14,753 bp, and contains 13 protein-coding genes (PCGs), 21 transfer RNAs, 2 ribosomal RNAs (16S and 12S), and 1 AT-rich region. The GC-content of the M. fasciculata mitogenome was 13.4%. Of the 36 coding regions, 12 tRNAs and 9 PCGs were encoded in the heavy strand, and 9 tRNAs, 4 PCGs and 2 rRNAs were encoded in the light strand. The relative orientation and gene order was the same as other stingless bee mitogenomes. Phylogenetic inference produced well-resolved relationships with high statistical support for concordant branch topologies, under different optimization schemes and model parameters, within and among Melipona, Bombus, Apis, and related clades of Hymenoptera. In general, our divergence time estimates, which were based on the concatenated gene sequences (PCGs + rRNAs) from various groups, overlapped estimations captured by Bayesian analysis from different studies. The divergence time among Melipona species was estimated to occur during the Oligocene, approximately 24 Mya (95% HPD 14-36 Mya). Our results represent a valuable addition to help understanding not only the taxonomy and evolution of Brazilian stingless bee species, but also to uncover historical dispersal and isolation patterns in Meliponinae.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A New Differential Gene Expression Based Simulated Annealing for Solving Gene Selection Problem: A Case Study on Eosinophilic Esophagitis and Few Other Gastro-intestinal Diseases.","authors":"Koushiki Sinha, Sanchari Chakraborty, Arohit Bardhan, Riju Saha, Srijan Chakraborty, Surama Biswas","doi":"10.1007/s10528-024-10987-z","DOIUrl":"https://doi.org/10.1007/s10528-024-10987-z","url":null,"abstract":"<p><p>Identifying the set of genes collectively responsible for causing a disease from differential gene expression data is called gene selection problem. Though many complex methodologies have been applied to solve gene selection, formulated as an optimization problem, this study introduces a new simple, efficient, and biologically plausible solution procedure where the collective power of the targeted gene set to discriminate between diseased and normal gene expression profiles was focused. It uses Simulated Annealing to solve the underlying optimization problem and termed here as Differential Gene Expression Based Simulated Annealing (DGESA). The Ranked Variance (RV) method has been applied to prioritize genes to form reference set to compare with the outcome of DGESA. In a case study on Eosinophilic Esophagitis (EoE) and other gastrointestinal diseases, RV identified the top 40 high-variance genes, overlapping with disease-causing genes from DGESA. DGESA identified 40 gene pathways each for EoE, Crohn's Disease (CD), and Ulcerative Colitis (UC), with 10 genes for EoE, 8 for CD, and 7 for UC confirmed in literature. For EoE, confirmed genes include KRT79, CRISP2, IL36G, SPRR2B, SPRR2D, and SPRR2E. For CD, validated genes are NPDC1, SLC2A4RG, LGALS8, CDKN1A, XAF1, and CYBA. For UC, confirmed genes include TRAF3, BAG6, CCDC80, CDC42SE2, and HSPA9. RV and DGESA effectively elucidate molecular signatures in gastrointestinal diseases. Validating genes like SPRR2B, SPRR2D, SPRR2E, and STAT6 for EoE demonstrates DGESA's efficacy, highlighting potential targets for future research.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142790634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Exploring the Role of the TGF-β Signaling Pathway in Colorectal Precancerous Polyps Biochemical Genetics.","authors":"Shadi Sadri, Ali Aghajani, Hiva Soleimani, Sourena Ghorbani Kalkhajeh, Haniyeh Nazari, Peiman Brouki Milan, Noshad Peyravian, Zahra Pezeshkian, Maziar Malekzadeh Kebria, Fatemeh Shirazi, Elahe Shams, Fatemeh Naderi Noukabadi, Ehsan Nazemalhosseini-Mojarad, Zahra Salehi","doi":"10.1007/s10528-024-10988-y","DOIUrl":"https://doi.org/10.1007/s10528-024-10988-y","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is an important public health issue and is the third most common cancer, accounting for approximately 10% of all cancer cases worldwide. CRC results from the accumulation of multiple genetic and epigenetic alterations in the normal epithelial cells of the colon and rectum, leading to the development of colorectal polyps and invasive carcinomas. The transforming growth factor-beta (TGF-β) pathway is regulated in many diseases, such as cancer. This factor can show tumor suppressant function in the early stages in healthy and cancer cells. It can be regulated and affected by different factors, including noncoding RNAs, which are the remarkable regulators for this pathway. The most prominent functions of this factor are cell cycle arrest and apoptosis in cancer cells. However, activating at the final stages of the cell cycle can cause tumor metastasis. Thus, the dual function of TGF-β and the pleiotropic nature of this signaling make it a crucial challenge for cancer treatment. Accurately studying the TGF-β signaling pathway is critical to determine its role. One of the roles of TGF-β signaling is its significant effect on colorectal polyp malignancy and cancer. In this article, we review the published scientific papers regarding the TGF-β signaling pathway, its related genes, and their contribution to precancerous conditions and colorectal cancer progression. The complex interaction of the TGF-β signaling pathway with noncoding RNAs, such as lncRNA TUG1 and miR-21, significantly influences colorectal polyp and cancer progression. Identifying dysregulated TGF-β-related noncoding RNAs offers promising therapeutic avenues for colorectal cancer. Comprehending TGF-β's connection to other molecular mechanisms is crucial for advancing effective therapeutic strategies.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jianfeng Mi, Ling Zhao, Yonglong Shen, Shien Mo, Yan Kuang
{"title":"PFKP Lactylation Promotes the Ovarian Cancer Progression Through Targeting PTEN.","authors":"Jianfeng Mi, Ling Zhao, Yonglong Shen, Shien Mo, Yan Kuang","doi":"10.1007/s10528-024-10990-4","DOIUrl":"https://doi.org/10.1007/s10528-024-10990-4","url":null,"abstract":"<p><p>Ovarian cancer (OC) ranks among the most prevalent malignancies affecting females globally and is a leading cause of cancer-related mortality in women. This study sought to elucidate the influence of phosphofructokinase P (PFKP) on the progression of OC. A cohort of sixty OC patients was enrolled. OC cells were exposed to both normoxic and hypoxic conditions. Expression levels of PFKP and phosphatase and tensin homolog (PTEN) were quantified using real time quantitative polymerase chain reaction (RT-qPCR) and Western blot analyses. Immunofluorescence confirmed these protein expression patterns. Glycolysis-related parameters, encompassing glucose uptake, extracellular lactate levels, extracellular acidification rates, and oxygen consumption rates, were assessed using commercially available kits. Lactylation status of PFKP was evaluated via immunoprecipitation followed by Western blot analysis. An OC xenograft mouse model was also established. Findings indicated elevated PFKP expression in OC tissues and cells. Additionally, PFKP knockdown attenuated glycolysis and counteracted the hypoxia-induced enhancement of glycolytic activity in OC cells. Mutation of the lysine (K) residue at position 392 diminished PFKP lactylation. Further investigations revealed that PFKP depletion upregulated PTEN expression in hypoxia-treated OC cells. Besides, PTEN suppression increased the glycolysis in hypoxia-treated OC cells. Animal study results demonstrated that PFKP inhibition curtailed OC tumor growth by modulating PTEN expression. Collectively, these results suggested that lactylation of PFKP at the K392 residue promoted glycolysis in OC cells by regulating PTEN, thereby facilitating the disease's progression.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142783658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lei Dou, Wei You, Yannan Chai, Huiju Shi, Qing Liu, Qiaoli Jiang, Huiling Li
{"title":"LncRNA H19 Promotes Angiogenesis in Mouse Pulmonary Artery Endothelial Cells by Regulating the HIF-1α/VEGF Signaling Pathway.","authors":"Lei Dou, Wei You, Yannan Chai, Huiju Shi, Qing Liu, Qiaoli Jiang, Huiling Li","doi":"10.1007/s10528-024-10983-3","DOIUrl":"https://doi.org/10.1007/s10528-024-10983-3","url":null,"abstract":"<p><p>Persistent pulmonary hypertension of the newborn (PPHN) is a syndrome of acute respiratory failure characterized by systemic hypoxemia and elevated pulmonary arterial pressure, which leads to pathological changes in pulmonary vascular remodeling and endothelial cell function. Long non-coding RNA (lncRNA) H19 has been shown to be involved in the regulation of arterial endothelial cell function, but its regulatory role in PPHN is not fully understood. In the present study, mouse pulmonary artery endothelial cells (MPAECs) were cultured in a hypoxic conditions. Subsequently, the regulatory function of lncRNA H19 on MPAECs was explored by constructing adenoviruses knocking down and overexpressing lncRNA H19. The results revealed that the hypoxic conditions could induce the proliferation and migration of MPAECs, as well as the high expression of lncRNA H19 in MPAECs. Knockdown of lncRNA H19 expression in MPAECs reversed hypoxic environment-induced functional changes in endothelial cells, whereas overexpression of lncRNA H19 further enhanced the proliferation and migration of MPAECs. In addition, lncRNA H19 upregulated the hypoxia-inducible factor-1α (HIF-1α)/vascular endothelial growth factor (VEGF) pathway through sponge of miNA-20a-5p, which in turn promoted changes in endothelial cell function. LncRNA H19 may interfere with vascular remodeling in hypoxia-induced pulmonary hypertension by upregulating the expression of HIF-1α and VEGF in vascular endothelial cells.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammed S Alorjani, Samir Al Bashir, Basmah Al-Zaareer, Sohaib Al-Khatib, Raed M Al-Zoubi, Bahaa Al-Trad, Manal AbuAlarja, Ayman Alzu'bi, Mohammad Al-Hamad, Khalid Al-Batayneh, Mazhar S Al-Zoubi
{"title":"Prevalence of SPOP and IDH Gene Mutations in Prostate Cancer in a Jordanian Population.","authors":"Mohammed S Alorjani, Samir Al Bashir, Basmah Al-Zaareer, Sohaib Al-Khatib, Raed M Al-Zoubi, Bahaa Al-Trad, Manal AbuAlarja, Ayman Alzu'bi, Mohammad Al-Hamad, Khalid Al-Batayneh, Mazhar S Al-Zoubi","doi":"10.1007/s10528-024-10974-4","DOIUrl":"https://doi.org/10.1007/s10528-024-10974-4","url":null,"abstract":"<p><p>Speckle-type POZ (SPOP) is described as an essential tumor suppressor factor in gastric cancer, colorectal cancer, and prostate cancer (PCa). SPOP gene mutations were reported in primary human PCa. Isocitrate dehydrogenase-1 (IDH1) oncogene mutations were detected in gliomas, acute myeloid leukemia, some benign and malignant cartilaginous tumors, and only 1% of PCa. This study aimed to investigate the prevalence of mutations of SPOP and IDH1 genes in PCa in the Jordanian population. One hundred formalin-fixed paraffin-embedded tissue samples were collected from patients diagnosed with prostate adenocarcinoma. The obtained specimens were subjected to genomic DNA extraction, PCR amplification, and direct sequencing of exons 4, 5, 6, and 7 of the SPOP gene and exon 6 of the IDH1 gene. SPOP gene mutations were found in 17% of PCa cases, while no mutation was detected in the screened exon 6 of the IDH1 gene. Clinicopathological data demonstrated a strong correlation between prostate-specific antigen (PSA) levels and both Gleason score (GS) and the International Society of Urological Pathology (ISUP) grade group (GG). There was no significant correlation between PSA levels and age (p = 0.816) nor there were significant associations for SPOP mutational status with age (p = 0.659), PSA levels (p = 0.395), GS (p = 0.259), and ISUP GG (p = 0.424) in the tested population. The study found a strong correlation between PSA levels and both GS and ISUP GG. It also identified a high frequency (17%) of SPOP gene mutations in Jordanian Arab PCa patients, mainly in exon 7. No IDH1 mutations were detected in exon 6.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}