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{"title":"Haplotype-based association of CYB5A gene polymorphisms (rs1790834 and rs1790858) with polycystic ovary syndrome in a south Indian cohort","authors":"Mary Martin ,&nbsp;L.P. Rema ,&nbsp;Neetha George ,&nbsp;Roger Francis ,&nbsp;Sareena Gilvaz ,&nbsp;Jijo Francis ,&nbsp;P.J. Divya ,&nbsp;P.R. Varghese ,&nbsp;R. Suresh Kumar","doi":"10.1016/j.gene.2025.149806","DOIUrl":"10.1016/j.gene.2025.149806","url":null,"abstract":"<div><h3>Background</h3><div>Cytochrome b5 type A (<em>CYB5A</em>) augments the 17,20-lyase activity of CYP17A1, a crucial enzyme in androgen biosynthesis. A significant contributing factor to polycystic ovarian syndrome (PCOS) is dysregulated androgen production. This study examined the relationship between PCOS susceptibility and the <em>CYB5A</em> polymorphisms rs1790834 and rs1790858 in a population from South India. While <em>CYB5A</em> polymorphisms have been analysed in other diseases, this study is the first to investigate their association with PCOS.</div></div><div><h3>Methods</h3><div>A case-control study was performed with 194 patients diagnosed with PCOS and 194 age-matched controls. PCR-RFLP was used for genotyping of the rs1790834 and rs1790858 variants. Chi-square tests were used to compare allele frequencies and genotypes. Using Haploview, linkage disequilibrium and haplotype analysis were carried out, and gene-obesity interactions were evaluated through subgroup analysis based on BMI.</div></div><div><h3>Results</h3><div>No substantial correlation was detected between individual SNP genotypes or alleles and PCOS within the overall population. ANOVA analysis revealed no significant correlation between genotypes and anthropometric parameters (weight, height, BMI). Haplotype analysis also failed to identify any robust association.</div></div><div><h3>Conclusion</h3><div>While <em>CYB5A</em> plays a role in androgen biosynthesis through modulation of CYP17A1 activity, our results suggest that the studied SNPs may not independently contribute to PCOS susceptibility in this population. The genetic architecture of PCOS likely involves polygenic contributions, and variants in other steroidogenic or metabolic pathway genes may exert a greater influence than <em>CYB5A</em> alone. Larger studies with greater statistical power, multi-ethnic cohorts, genome-wide approaches, and functional validation are needed to clarify the role of CYB5A in PCOS pathogenesis fully.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"971 ","pages":"Article 149806"},"PeriodicalIF":2.4,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The roles and function of circular RNA in prostate cancer","authors":"Xuan Shu ,&nbsp;Jiaming Wang ,&nbsp;Danni Chen ,&nbsp;Yuxiao Li ,&nbsp;Yuchen Shi ,&nbsp;Hong Chen ,&nbsp;Liping Xie ,&nbsp;Jindan Luo","doi":"10.1016/j.gene.2025.149801","DOIUrl":"10.1016/j.gene.2025.149801","url":null,"abstract":"<div><div>Circular RNA (circRNA), a class of non-coding RNAs characterized by its covalently closed circular structure, exhibits high stability and resistance to degradation. Over recent years, circRNAs have emerged as key regulators in various biological processes, which influence tumorigenesis and progression through mechanisms such as regulating gene transcription, competitively binding to miRNA, interacting with proteins, and encoding peptides, making it a potential novel tumor biomarker or therapeutic target. Prostate cancer is increasingly becoming the most common cancer among men in many countries and regions worldwide. However, the specific molecular mechanism of malignant progression of prostate cancer is still not fully determined. In this review, we summarize the regulatory roles and molecular mechanisms of circRNA in prostate cancer, focusing on biological functions such as cell cycle, cell proliferation, apoptosis, ferroptosis, migration, invasion, metastasis, drug or radiotherapy resistance, and immune microenvironment. We provide advanced insights on the role, functions and potential clinical applications of circRNA in prostate cancer.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"971 ","pages":"Article 149801"},"PeriodicalIF":2.4,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145238480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of adiponectin and fat mass and obesity genetic variants with breast cancer risk in Egyptian females","authors":"Manal A. Safan ,&nbsp;Waheed M. Salem ,&nbsp;Yostena Mekhail ,&nbsp;Mirna M. Abdelfattah","doi":"10.1016/j.gene.2025.149808","DOIUrl":"10.1016/j.gene.2025.149808","url":null,"abstract":"<div><h3>Background</h3><div>Breast cancer (BC) remains the most common cause of cancer-related mortality in women worldwide, driven by a combination of genetic predisposition and environmental influences. Obesity is a major modifiable risk factor, and recent studies have implicated genetic variants in the Adiponectin (<em>ADIPOQ</em>) and Fat Mass and Obesity-associated (<em>FTO</em>) genes in increasing the risk of both obesity and breast cancer across various populations.</div></div><div><h3>Objective</h3><div>This study investigates the association between <em>ADIPOQ</em> rs2241766 and <em>FTO</em> rs9939609 polymorphisms with BC risk and clinicopathological features in Egyptian women.</div></div><div><h3>Methods</h3><div>A case-control study was conducted on 192 female participants (96 BC patients and 96 age- and sex-matched healthy controls). Genotyping was performed using TaqMan real-time PCR assays. serum levels of ADIPOQ, FTO, carcinoembryonic antigen (CEA), and cancer antigen 15-3 (CA15-3) was carried out using enzyme-linked immunoassay techniques. Clinical data were also analyzed.</div></div><div><h3>Results</h3><div>The TG and GG genotypes, as well as the G allele of <em>ADIPOQ</em> rs2241766, were significantly associated with increased BC risk (OR = 2.300 and 4.836, respectively; p &lt; 0.05). The G allele was associated with younger age and hormone receptor–positive subtypes. Similarly, the TA and AA genotypes and A allele of <em>FTO</em> rs9939609 were significantly associated with increased BC risk (OR = 4.423 and 7.656, respectively; p &lt; 0.001). BMI was significantly higher among BC patients (p &lt; 0.001), highlighting the potential interaction between genetic and metabolic risk factors.</div></div><div><h3>Conclusion</h3><div>The <em>ADIPOQ</em> rs2241766 and <em>FTO</em> rs9939609 polymorphisms are significantly associated with elevated BC risk in Egyptian women. These variants may serve as genetic markers for susceptibility, supporting their integration into personalized risk assessment and prevention strategies, especially in populations with high obesity prevalence.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"971 ","pages":"Article 149808"},"PeriodicalIF":2.4,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145219014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional characterization of AoKat1, a major facilitator superfamily transporter involved in kojic acid production in Aspergillus oryzae.","authors":"Yue Chen, Chenning Chao, Tianqi Han, Yafei Gu, Qian Wang, Xianli Xue, Depei Wang","doi":"10.1016/j.gene.2025.149807","DOIUrl":"https://doi.org/10.1016/j.gene.2025.149807","url":null,"abstract":"<p><p>Kojic acid (KA) is a fungal secondary metabolite with wide-ranging industrial applications; however, the molecular mechanisms underlying its extracellular export remain incompletely understood. While KojT, a major facilitator superfamily (MFS) transporter, has been implicated in KA transport, evidence suggests it is not the sole contributor. Here, we identify and functionally characterize a MFS transporter, AoKat1, in Aspergillus oryzae. Comparative transcriptomic analysis between the wild-type strain and a high-KA-producing strain (T58) revealed AoKat1 as significantly upregulated during peak KA production. Structural modeling and molecular docking suggested that KA binds with high affinity within the central cavity of AoKat1. Functional studies showed that overexpression of AoKat1 (OEAoKat1) increased KA production to approximately 43.9  g/L, representing a 31 % improvement compared to the wild-type strain. AoKat1 expression also impacted colony morphology, sporulation, carbon source utilization, and oxidative stress sensitivity. Notably, deletion of AoKat1 led to transcriptional upregulation of kojT, suggesting a compensatory mechanism between these transporters. Moreover, antioxidant genes (catB and GSH) were upregulated in the OEAoKat1 strain during early fermentation, then declined as KA accumulated. This study provides new insight into KA biosynthetic regulation and offer a genetic target to optimize KA production through metabolic engineering.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"149807"},"PeriodicalIF":2.4,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LILRB4 in tumor-associated macrophage regulates macrophage polarization and glioblastoma progression via STAT3/IL10 axis","authors":"Jie Pei ,&nbsp;Chao Li ,&nbsp;Qi Liu ,&nbsp;Fuchun Miao ,&nbsp;Zhou Zheng ,&nbsp;Cheng Sun ,&nbsp;Bingyan Tao ,&nbsp;Jihua Wang ,&nbsp;Ling Yang ,&nbsp;Peng Liu ,&nbsp;Yaping Feng ,&nbsp;Cidan Danzhen ,&nbsp;Junyi Chen ,&nbsp;Yuyang Liu","doi":"10.1016/j.gene.2025.149805","DOIUrl":"10.1016/j.gene.2025.149805","url":null,"abstract":"<div><h3>Background</h3><div>Glioblastoma (GBM), the most aggressive primary brain tumor, exhibits a profoundly immunosuppressive tumor microenvironment (TME) dominated by M2-like tumor-associated macrophages (TAMs). The leukocyte immunoglobulin-like receptor B4 (LILRB4) has emerged as a critical immunoregulatory molecule implicated in cancer progression, yet its role in GBM remains poorly understood. This study investigated the expression, prognostic significance, and functional role of LILRB4 in TAM-mediated immunosuppression and GBM progression.</div></div><div><h3>Methods</h3><div>Expression patterns and prognostic significance of LILRB4 were analyzed using TCGA and validation datasets. Single-cell RNA sequencing (scRNA-seq), spatial transcriptomics (ST), and proteogenomics analyses identified cellular sources and spatial distribution of LILRB4. THP-1 cells were differentiated into TAM-like macrophages using PMA and tumor-conditioned medium (TCM) from GBM cells. LILRB4 was silenced using shRNA, and macrophage polarization markers were assessed by RT-qPCR, western blot, and ELISA.</div></div><div><h3>Results</h3><div>LILRB4 was identified as an independent prognostic factor in glioma, with high expression correlating with poor survival. Multiple bioinformatics approaches revealed strong LILRB4-M2 macrophage associations. ST revealed predominant LILRB4 expression in macrophage clusters with strongest tumor cell co-occurrence, identifying LAIR1 as a potential receptor. Proteogenomics analysis showed strong LILRB4 protein-mRNA correlations and associations with M2 markers. LILRB4 regulated macrophage polarization through the STAT3/IL10 axis. Knockdown reversed M2-like phenotype toward M1-like state, decreasing CD163, IL10, and TGFB1 while increasing IL1B and TNFA. TCM from LILRB4 knockdown macrophages significantly inhibited GBM cell proliferation.</div></div><div><h3>Conclusion</h3><div>LILRB4 might functions as a critical regulator of the immunosuppressive TME in GBM by promoting M2 macrophage polarization through the STAT3/IL10 axis. Targeting LILRB4 represents a promising approach for enhancing immunotherapeutic efficacy in GBM.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"971 ","pages":"Article 149805"},"PeriodicalIF":2.4,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative chloroplast RNA editing analysis in wild and genetically diverse niger (Guizotia abyssinica L.F. Cass) genotypes reveal domestication-driven divergence and wild-specific resilience","authors":"Sneha Podicheti ,&nbsp;Mulpuri Sujatha ,&nbsp;Kandasamy Ulaganathan ,&nbsp;Burragoni Sravanthi Goud","doi":"10.1016/j.gene.2025.149797","DOIUrl":"10.1016/j.gene.2025.149797","url":null,"abstract":"<div><div>RNA editing is a key post-transcriptional mechanism that alters RNA sequences, thereby influencing gene expression, protein function, and stress adaptability in plants. Despite extensive characterization in model species, its prevalence and functional significance in underutilized crops remains limited. Here, we present the first comprehensive analysis of chloroplast RNA editing in <em>Guizotia abyssinica</em> (niger), an underutilized but economically important oilseed crop, and its wild relative <em>G. scabra</em> (GS), along with three geographically diverse domesticated genotypes, JNS-28 (India), ETH-19 (Ethiopia), and USDA-15 (USA). Using high-throughput Illumina RNA-sequencing and REDItools, 404 RNA editing sites were identified in GS, followed by 304 in USDA-15, 220 in ETH-19, and 166 in JNS-28, with C-to-U conversions being most prevalent. Homology-based analyses revealed putative PPR, MORF, and OZ1 family members, whose expression patterns, analyzed by DESeq2, showed significant divergence between wild and cultivated genotypes, reflecting domestication and environment-driven selection. Phylogenetic analyses further suggested diversification of RNA editing factors in <em>G. abyssinica</em> compared to other oilseed and model species. Notably, domestication has reduced RNA editing diversity in cultivated genotypes, while the wild <em>G. scabra</em> retained extensive editing patterns with potential adaptive significance These findings illuminate organellar transcriptomic plasticity in niger, establish a molecular link between RNA editing and stress resilience, and highlight novel targets for breeding and biotechnological improvement of this underutilized oilseed crop.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"971 ","pages":"Article 149797"},"PeriodicalIF":2.4,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive insights into MACC1-AS1: Role in cancer and therapeutic implications","authors":"Chenhao Liang ,&nbsp;Yaojie Feng ,&nbsp;Yuhua Zhang ,&nbsp;Xinming Su ,&nbsp;Shiwei Duan","doi":"10.1016/j.gene.2025.149799","DOIUrl":"10.1016/j.gene.2025.149799","url":null,"abstract":"<div><div>Long non-coding RNAs (lncRNAs) are a diverse class of non-coding transcripts longer than 200 nucleotides that play critical roles in gene regulation and disease progression. Among them, MACC1 antisense RNA 1 (MACC1-AS1), located on chromosome 7p21.1, is transcribed in antisense orientation to the metastasis-associated in colon cancer-1 (MACC1) gene. MACC1-AS1 is significantly overexpressed in ten types of cancers and is associated with poor prognosis and clinical characteristics. MACC1-AS1 is transcriptionally or post-transcriptionally regulated by upstream modulators such as interferon-γ (IFN-γ), polypyrimidine tract-binding protein 1 (PTBP1), Smad2, transforming growth factor-β1 (TGF-β1), and Kras. In turn, MACC1-AS1 influences downstream effectors through three principal molecular mechanisms: acting as a competitive endogenous RNA (ceRNA) to modulate the microRNA (miRNA)–mRNA axis, binding antisense to MACC1 mRNA, and regulating transcription factors as well as downstream protein expression. MACC1-AS1 participates in multiple cellular signaling pathways, including AMPK, Hippo, PI3K/AKT, and Notch1 pathways. MACC1-AS1 modulates proliferation, apoptosis, epithelial–mesenchymal transition (EMT), invasion, migration, and the maintenance of cancer stemness. Moreover, MACC1-AS1 contributes to therapeutic resistance, conferring reduced sensitivity to chemotherapeutic agents such as 5-fluorouracil (5-FU), oxaliplatin, gemcitabine, and cisplatin, as well as to combination regimens including 5-fluorouracil and oxaliplatin (FOLFOX). This review provides an overview of the current knowledge surrounding MACC1-AS1 and highlights its potential as both a biomarker and a therapeutic target for future translational research.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149799"},"PeriodicalIF":2.4,"publicationDate":"2025-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145198979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SOGA1 drives ovarian cancer progression via regulation of GNAI1 and activation of the TNF/NF-κB pathway","authors":"Tengfei Long ,&nbsp;Xuqing Li ,&nbsp;Youwei Zhou ,&nbsp;Chengcheng Zhu ,&nbsp;Minmin Zhang ,&nbsp;Min Li ,&nbsp;Zhaolian Wei","doi":"10.1016/j.gene.2025.149800","DOIUrl":"10.1016/j.gene.2025.149800","url":null,"abstract":"<div><h3>Background</h3><div>Ovarian cancer (OC) poses a significant public health challenge due to its dismal prognosis and low survival rates. However, the mechanism of OC development remains unclear.</div></div><div><h3>Methods</h3><div>Transcriptomic data from the Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) databases underwent analysis to identify hub programmed cell death (PCD) genes in OC samples compared to normal controls, utilizing weighted gene co-expression network analysis (WGCNA) and Machine learning models. Then, conduct pan-cancer analysis and nomogram on the hub gene Suppressor Of Glucose, Autophagy Associated 1 (SOGA1). The expression levels of the SOGA1 gene were assessed in clinical samples through Reverse Transcription-Quantitative Real-time Polymerase Chain Reaction (RT-qPCR) experiments. Subsequently, Western Blot (WB), Cell Counting Kit-8 (CCK8), Terminal Deoxynucleotidyl Transferase-Mediated dUTP Nick End Labeling (Tunel) wound healing tests, transwell, RNA sequencing, and subcutaneous tumorigenesis in C57BL/6 mice were conducted to investigate the correlation between SOGA1 and OC cell proliferation, invasion, migration, and other functions, as well as the underlying mechanisms.</div></div><div><h3>Results</h3><div>Through integrated bioinformatics analyses, SOGA1 emerged as a hub gene of PCD in OC. Overexpression of SOGA1 correlated with poor prognosis across multiple cancers, including OC, and served as an independent prognostic factor. The developed nomogram, incorporating SOGA1 expression, accurately predicted overall survival (OS) in OC patients. SOGA1 was significantly upregulated in OC tissues, and high expression of SOGA1 was significantly correlated with lymph node metastasis. Both in vitro and in vivo, modulation of SOGA1 expression led to changes in OC cell proliferation, and SOGA1 promoted OC cell invasion, migration and inhibit apoptosis and inhibit apopapoptosis in vitro. Mechanistically, we found that SOGA1 regulates the Guanine Nucleotide-Binding Protein G (I) Subunit Alpha-1 (GNAI1) protein and facilitates TNF-alpha / NFκB signaling.</div></div><div><h3>Conclusion</h3><div>This study has confirmed that SOGA1 can regulate the progression of the disease by influencing the TNF signaling pathway according to regulate GNAI1 expression.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"971 ","pages":"Article 149800"},"PeriodicalIF":2.4,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum 2-miRNA panel as a non-invasive diagnostic biomarker for adenomyosis","authors":"Fangfang Zhou ,&nbsp;Shuyu Xia ,&nbsp;Lin Gan ,&nbsp;Guiping Wan ,&nbsp;Jian Cao ,&nbsp;Yingying Qiu ,&nbsp;Zhihui Wang ,&nbsp;Tao Gui","doi":"10.1016/j.gene.2025.149777","DOIUrl":"10.1016/j.gene.2025.149777","url":null,"abstract":"<div><div>Adenomyosis (AM) is a common non-cancerous condition of the uterus that has significant effects on women’s health. Despite its clinical importance, the advancement of dependable non-invasive diagnostic biomarkers has yet to be achieved. This study sought to examine the potential role of serum microRNAs (miRNAs) as biomarkers for the diagnosis of AM. Initial high-throughput Solexa sequencing revealed a significant increase in serum concentrations of miR-101-3p and miR-143-3p in patients with AM compared to healthy individuals. The results were later validated through the application of absolute quantitative reverse transcription polymerase chain reaction (qRT-PCR). Each miRNA demonstrated strong diagnostic potential, as indicated by the areas under the receiver operating characteristic (ROC) curve (AUCs) of 0.881 and 0.901, respectively. The diagnostic performance exhibited notable improvement when the two miRNAs were integrated into a panel, resulting in an AUC of 0.941. At a specific threshold of 0.385, the panel demonstrated sensitivity and specificity rates of 93.33 % and 96.67 %, respectively. Additionally, the panel demonstrated excellent discriminatory power (AUC &gt; 0.9) in distinguishing AM from other gynecological conditions. Notably, serum miRNA levels and the composite panel score exhibited significant positive correlations with key clinical features of AM. Methodological assessments indicated that serum miRNAs remained stable under extended storage at 4 °C and after repeated freeze–thaw cycles. These results support the serum 2-miRNA panel as a reliable, non-invasive diagnostic tool for AM, with potential to enhance diagnostic precision and improve disease management.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149777"},"PeriodicalIF":2.4,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cloning, biochemical identification and characterization of purine nucleoside N-ribohydrolase in Levilactobacillus brevis","authors":"Mokhammad Khoiron Ferdiansyah ,&nbsp;Seung Hyeon Ji ,&nbsp;Beomseok Park ,&nbsp;Yong Hwi Kwon ,&nbsp;Myeong Seong Cha ,&nbsp;Gaddapara Manasa ,&nbsp;Kwang-Pyo Kim","doi":"10.1016/j.gene.2025.149804","DOIUrl":"10.1016/j.gene.2025.149804","url":null,"abstract":"<div><div>Purine nucleoside N-ribohydrolase (PNase) plays a crucial role in purine metabolism and possibly in hyperuricemia management by degrading purine nucleosides. However, the genetic basis of the enzyme activity in lactic acid bacteria (LAB) remains largely unexplored. This study aimed to clone and express four putative PNase genes from<!--> <em>Levilactobacillus brevis</em> <!-->LABC170, and to identify the gene(s) responsible for degrading adenosine, guanosine, and inosine. Furthermore, we studied optimal reaction conditions and enzyme kinetics. The four putative PNase genes were cloned, and enzymatic activity was evaluated by high-performance liquid chromatography (HPLC). The optimal pH and temperature were determined, and kinetic parameters were analyzed. Among the candidates, the recombinant PNase 3 gene product exhibited purine nucleosidase activity with optimal activity at pH 7 and temperatures between 35 and 40 °C, while it failed to degrade pyrimidine nucleosides. Kinetic analysis showed the turnover number for adenosine, with a Kcat of 2.18 × 10³ ± 2.29 × 10² min⁻¹ and a catalytic efficiency of 2.79 × 10⁴ ± 2.94 × 10³ mM⁻¹·min⁻¹, followed by guanosine and inosine. PNase 3 from<!--> <em>L. brevis</em> <!-->LABC170 demonstrates promising potential for hyperuricemia management and application in functional foods aimed at modulating purine metabolism.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"970 ","pages":"Article 149804"},"PeriodicalIF":2.4,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}