Gene Reports最新文献

{"title":"Integrated morphological, histological and transcriptomic profiling of papilla regeneration in the sea cucumber Apostichopus japonicus","authors":"Wanrong Tian ,&nbsp;Xiaonan Li ,&nbsp;Xuan Liu ,&nbsp;Junhui Wang ,&nbsp;Qi Ye ,&nbsp;Jinwei Zhao ,&nbsp;Weiyan Li ,&nbsp;Haoran Xiao ,&nbsp;Yongjie Wang ,&nbsp;Yinghui Li ,&nbsp;Lingshu Han ,&nbsp;Chong Zhao ,&nbsp;Jun Ding","doi":"10.1016/j.genrep.2025.102399","DOIUrl":"10.1016/j.genrep.2025.102399","url":null,"abstract":"<div><div>The sea cucumber (<em>Apostichopus japonicus</em>) is an important cultured species with high nutritional and economic value. Body surface papillae are prominent body wall structures, whose morphology can influence external appearance and commercial grading while also being capable of regeneration. Despite their importance, the cellular and molecular mechanisms underlying papilla regeneration in <em>A. japonicus</em> remain largely unknown. We hypothesized that this process is orchestrated by a dynamic interplay between extracellular matrix (ECM) remodeling and evolutionarily conserved signaling pathways. To test this, this study involved the excision of papillae from sea cucumbers, followed by morphological, histological and transcriptomic analyses at 1, 3-, 7-, 14-, and 21-days post-experiment. Morphological analysis indicated that by 21 days post-regrowth, the appearance of the sea cucumber papillae was nearly indistinguishable from its pre-regrowth state. Histological analysis revealed that the tissues had largely reverted to their normal state by the 21st day of regeneration. Thus, the regeneration period of papillae is approximately 21 days.</div><div>An Illumina transcriptome analysis was performed on the sea cucumbers at 1, 3-, 7-, 14-, and 21-days after the papillae were cut. Differentially expressed genes were classified and enriched through GO and KEGG databases. These results suggest that the regeneration of sea cucumber papillae is associated with the reconstruction of the extracellular matrix, and the ECM-receptor interaction signaling pathway plays a pivotal role in this process. Several key genes, such as <em>COL1A2</em>, <em>DMBT1</em>, <em>fibropellin-ia</em>, <em>TNXB</em>, and <em>KCP</em>, were identified as collective regulators of papillae regeneration in sea cucumbers. Sea cucumbers exhibit an extraordinary capacity to regenerate damaged or lost tissues and organs. This study identifies the ECM-receptor interaction pathway and key genes (such as <em>COL1A2</em>, <em>DMBT1</em>) as crucial regulators of sea cucumber papillae regeneration.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102399"},"PeriodicalIF":0.9,"publicationDate":"2025-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of LMNA gene polymorphism (rs581342) on lung cancer susceptibility: Evidence from a southeast Iranian population","authors":"Narges Karimi ,&nbsp;Ali Afgar ,&nbsp;Maryam Fekri Soufiabadi ,&nbsp;Maryam Iranpour ,&nbsp;Mohammad Reza Zangouey ,&nbsp;Seyed Mehdi Hashemi Bajgani ,&nbsp;Shahriar Dabiri","doi":"10.1016/j.genrep.2025.102411","DOIUrl":"10.1016/j.genrep.2025.102411","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to evaluate the association between the rs581342 polymorphism and lung cancer risk in an Iranian population. No prior research has investigated this relationship in southeast Iran.</div></div><div><h3>Method</h3><div>A case–control study was conducted on 300 individuals (150 lung cancer patients and 150 healthy controls) in southern Iran (2022–2024). Cases and controls were matched to sex and age. Demographic variables, histological subtypes, and tumor differentiation grades were collected. Genotyping of rs581342 was performed using the ARMS-PCR method. Statistical analyses included chi-square test, logistic regression, and Hardy–Weinberg equilibrium.</div></div><div><h3>Results</h3><div>Patients with small cell lung cancer (SCLC) were significantly older than those with non-small cell lung cancer (NSCLC) (<em>P</em> &lt; 0.05), and males had a higher prevalence of lung cancer (<em>P</em> = 0.005). Genotype distribution differed between patients and controls (<em>P</em> = 0.001), but not between genders (<em>P</em> = 0.121). The TC genotype was protective (OR = 0.29), while the CC genotype increased risk (OR = 1.78). No association was found with cancer subtypes; however, genotype distribution strongly correlated with tumor differentiation (<em>P</em> &lt; 0.0001). The substantial deviation from Hardy–Weinberg equilibrium (χ² = 189.3, P &lt; 0.0001) appears to reflect methodological constraints of the ARMS-PCR assay rather than any underlying selective pressure. Logistic regression confirmed gender (OR = 1.958, <em>P</em> = 0.017) and genotype (<em>P</em> = 0.008) as significant predictors, while age showed borderline significance (<em>P</em> = 0.096).</div></div><div><h3>Conclusion</h3><div>The rs581342 polymorphism may serve as a genetic marker for lung cancer susceptibility and tumor differentiation, though not for histological subtype classification.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102411"},"PeriodicalIF":0.9,"publicationDate":"2025-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel de novo WDR45 frameshift variant in early-onset developmental and epileptic encephalopathy with atypical MRI features","authors":"Firoz Ahmad ,&nbsp;Sapna Sandal ,&nbsp;Pradnya Gadgil ,&nbsp;Suhani Shah ,&nbsp;Amisha Shah ,&nbsp;Meenu Angi ,&nbsp;Pooja Chaudhary ,&nbsp;Spandan Chaudhary ,&nbsp;Neeraj Arora","doi":"10.1016/j.genrep.2025.102410","DOIUrl":"10.1016/j.genrep.2025.102410","url":null,"abstract":"<div><div>We report a 4-year-1-month-old female who presented with a complex neurodevelopmental disorder featuring early-onset epilepsy and global developmental delay. Seizures began at 9 months, progressing to multiple types (focal, clonic, and automatisms) with electroencephalogram (EEG) evidence of left hemispheric dysfunction. Developmental milestones were severely delayed, and examination revealed microcephaly, dysmorphism (frontal bossing, café-au-lait spot), and right sensorineural hearing loss. Brain Magnetic Resonance Imaging (MRI) showed left-predominant atrophy, hippocampal sclerosis, and left temporal white-matter hyperintensity. Whole exome sequencing (WES) identified a novel <em>de novo</em> heterozygous pathogenic frameshift variant in <em>WDR45</em> NM_001029896.2:c.229_230del;p.(Ile77Leufs*36), confirming a diagnosis of neurodegeneration with brain iron accumulation type 5 (NBIA5). The variant, absent in parents and population databases, was classified as pathogenic (American College of Medical Genetics and Genomics (ACMG): PVS1, PS2, PM2_supporting). This case highlights the utility of WES in diagnosing childhood epileptic encephalopathies with atypical neuroimaging and expands the mutational spectrum of <em>WDR45</em>-related disorders. The findings underscore the importance of genetic testing in neurodevelopmental disorders with dysmorphism and refractory epilepsy.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102410"},"PeriodicalIF":0.9,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antimicrobial resistance profile, resistance gene distribution, and genotypic characterization of clinical Pseudomonas aeruginosa isolates from hospitals in northern Iran","authors":"Shayan Majidi ,&nbsp;Fatemeh Zaboli ,&nbsp;Rahem Khoshbakht ,&nbsp;Esmail Fattahi ,&nbsp;Mojtaba Khosravi","doi":"10.1016/j.genrep.2025.102409","DOIUrl":"10.1016/j.genrep.2025.102409","url":null,"abstract":"<div><div><em>Pseudomonas aeruginosa</em> is a major opportunistic pathogen responsible for a wide range of hospital-acquired infections, exhibiting remarkable resistance to multiple antibiotics. This study aimed to investigate the antibiotic resistance patterns, resistance-associated genes, and genetic diversity of <em>P. aeruginosa</em> isolates recovered from various hospital wards in Amol, northern Iran. A total of 76 clinical isolates were analyzed for antimicrobial susceptibility by the disk diffusion and broth microdilution methods. Extended-spectrum β-lactamase (ESBL) production and resistance gene profiles were determined by phenotypic and PCR assays, respectively. Genotypic diversity was assessed using random amplified polymorphic DNA (RAPD)-PCR. The highest resistance rates were observed against oxacillin (100 %), amoxicillin (96.05 %), and ampicillin/sulbactam (86.84 %), while polymyxin B (9.21 %) and colistin (17.1 %) showed the greatest activity. Sixteen isolates (21.05 %) were carbapenem-resistant, 26 (33.33 %) were ESBL producers, 36 (47.36 %) were multidrug-resistant (MDR), and 19 (25 %) were extensively drug-resistant (XDR). The most prevalent resistance genes included <em>oprD</em> (100 %), <em>sul1</em> (82.89 %), <em>int1</em> (69.73 %), <em>VIM</em> (25 %), and <em>bla</em>_<em>TEM</em> (22.36 %). A total of 48 distinct resistance gene patterns were identified. RAPD-PCR analysis revealed 37 genotypes (R-1 to R-37) with a high discriminatory index (0.9646), though no significant correlation was found between genotypes, resistance genes, or phenotypic resistance patterns (<em>P</em> &gt; 0.05). Overall, this study highlights the high prevalence of multidrug and carbapenem resistance <em>P. aeruginosa</em> (CRPA) isolates in Amol hospitals and underscores the need for continuous molecular surveillance and strict infection control measures to prevent the dissemination of resistant clones.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102409"},"PeriodicalIF":0.9,"publicationDate":"2025-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MNK1 affects thermal tolerance capability via SNP alteration in its coding sequence region in scallops (Patinopecten yessoensis)","authors":"Shaohua Liu ,&nbsp;Jingsong Wang ,&nbsp;Aoyu Fang ,&nbsp;Linghui Yu ,&nbsp;Huiqi Deng ,&nbsp;Yaqing Chang ,&nbsp;Yaoyao Zhan","doi":"10.1016/j.genrep.2025.102407","DOIUrl":"10.1016/j.genrep.2025.102407","url":null,"abstract":"<div><div>To clarify the relationship between <em>MNK1</em> gene expression and thermal tolerance capability in scallops, high-temperature (24 °C) treatment was performed to obtain high-temperature intolerance individuals (HN) and high-temperature tolerance individuals (HR) from the same lineage of the scallop <em>Patinopecten yessoensis</em>. Correlation of <em>MNK1</em> gene expression and thermal tolerance capability was preliminary established by determining relative expression of <em>MNK1</em> in both HN and HR groups. To further dissect the possible mechanism that <em>MNK1</em> expression affects thermal tolerance capability in <em>P. yessoensis</em>, regular PCR (polymerase chain reaction) amplification and bioinformatics analyses were employed to compare structures of <em>MNK1</em> coding sequence (CDS), predicted <em>MNK1</em> transcript, and predicted MNK1 protein between HN and HR groups. The results showed that: 1) the relative expression of <em>MNK1</em> gene in the gills of HR group was significantly lower than that of HN group (<em>P</em> &lt; 0.05); 2) CDS analysis of <em>MNK1</em> gene showed that there are three SNP sites at positions 652 (c.652 A &gt; G), 659 (c.659 C &gt; A), and 686 (c.686 C &gt; A) of <em>MNK1</em> CDS were different between HN and HR groups. Further analyses showed that all three identified SNPs exhibited a moderate polymorphism (0.25 ≤ PIC &lt;0.5) with a distribution in line with the Hardy-Weinberg equilibrium state (<em>P</em> &gt; 0.05). Compared with HN, the dominant genotype of the identified SNPs were AG (c.652 A &gt; G), CA (c.659 C &gt; A), and CA (c.686 C &gt; A) in CDS of <em>MNK1</em> gene of HR group. Bioinformatics analyses indicate that the predicted secondary structure of the MNK1 mRNA, the amino acid composition and the spatial structure of MNK1 protein could be altered when the c.686 C &gt; A site genotype changing from CC to <em>CA.</em> In conclusion, the results obtained in this study not only clarified the association between the <em>MNK1</em> gene expression and the high-temperature tolerance capability in <em>P. yessoensis</em>, but also provide novel biomarkers for selective breeding of <em>P. yessoensis</em> with high-temperature tolerance trait.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102407"},"PeriodicalIF":0.9,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increasing autologous conditioned serum growth factors and cytokine concentration: The use of poly lactic acid coated beads","authors":"Majid Zamani ,&nbsp;Saeid Kaviani ,&nbsp;Mehdi Yousefi ,&nbsp;Saeid Abroun ,&nbsp;Mohammad Hojjat-Farsangi ,&nbsp;Behzad Pourabbas","doi":"10.1016/j.genrep.2025.102408","DOIUrl":"10.1016/j.genrep.2025.102408","url":null,"abstract":"<div><h3>Introduction</h3><div>Blood derivatives are widely used in regenerative medicine. There are various types of blood derivatives, each with distinct characteristics. Autologous conditioned serum (ACS) is used in regenerative medicine, particularly for inflammatory conditions such as osteoarthritis, due to its content of interleukin-1 receptor antagonist (IL-1Ra). The aim of this study was to produce ACS using polylactic acid (PLA)-coated beads and to evaluate their effect on increasing the biomolecule content of this blood derivative.</div></div><div><h3>Methods</h3><div>Blood samples were collected from seven healthy volunteers into three tubes: one without beads, one with uncoated beads, and one with PLA-coated beads. The tube without beads was centrifuged immediately, while the tubes containing beads were incubated for 6 h at 37 °C before centrifugation. Serum samples were analyzed for sodium, potassium, calcium, and magnesium ion concentrations, total protein, vascular endothelial growth factor (VEGF), epidermal growth factor (EGF), transforming growth factor-beta (TGF-β), platelet-derived growth factor (PDGF), and the cytokines interleukin-1β (IL-1β) and IL-1Ra, as well as the IL-1Ra/IL-1β ratio.</div></div><div><h3>Results</h3><div>The concentrations of VEGF, TGF-β, EGF, PDGF, IL-1β, IL-1Ra, and the IL-1Ra/IL-1β ratio were significantly higher in ACS produced with PLA-coated beads compared with ACS prepared using uncoated beads and serum (<em>p</em> &lt; 0.05). However, no significant differences were observed in total protein or ion concentrations among the groups (<em>p</em> &gt; 0.05).</div></div><div><h3>Conclusion</h3><div>PLA-coated beads increased the concentrations of growth factors and cytokines in ACS. Further studies are needed to evaluate the therapeutic effectiveness of ACS produced with PLA-coated beads in clinical applications.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102408"},"PeriodicalIF":0.9,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epigenetic regulation in metabolic diseases and neuronal regeneration: Mechanisms, interactions, and therapeutic perspectives","authors":"Koyel Kar ,&nbsp;Priyanka Chakraborty ,&nbsp;Sailee Chowdhury ,&nbsp;Kamal Singh ,&nbsp;Mahendra Pratap Singh ,&nbsp;Sandeep Kumar Singh","doi":"10.1016/j.genrep.2025.102400","DOIUrl":"10.1016/j.genrep.2025.102400","url":null,"abstract":"<div><div>Neuronal damage in mammals often results in irreversible loss of function due to the limited regenerative capacity of the central nervous system. In contrast, lower vertebrates possess an intrinsic ability to regenerate neural tissue, providing valuable insight into potential repair mechanisms. Recent advances have revealed that epigenetic mechanisms—heritable yet reversible modifications that regulate gene expression without altering the DNA sequence—play a central role in orchestrating neuronal repair and regeneration.</div><div>This review focuses on the epigenetic regulation of neuronal regeneration, emphasizing how processes such as DNA methylation, histone modifications, and chromatin remodeling influence gene activation, glial responses, and stem cell reprogramming following neural injury. We discuss three major neural systems of therapeutic relevance—the spinal cord, inner ear, and neural retina—highlighting tissue-specific differences in regenerative potential and their underlying epigenetic signatures.</div><div>Furthermore, the review explores how epigenetic interventions, including inhibitors of histone deacetylases (HDACs) and DNA methyltransferases (DNMTs), can reactivate dormant regenerative pathways. Understanding these dynamic and reversible molecular processes may enable the design of targeted therapies that enhance plasticity and promote functional recovery in non-regenerative tissues.</div><div>By integrating current knowledge and identifying key knowledge gaps, this work underscores the transformative potential of epigenetic modulation as a therapeutic strategy to overcome the regenerative limitations of the mammalian nervous system.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102400"},"PeriodicalIF":0.9,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of NOS3-786T>C and Intron 4 VNTR polymorphisms with respect to acute leukaemia risk in Algerian patients","authors":"N. Benhalilou ,&nbsp;L.M. Berkani ,&nbsp;Z.-E.-I. Lamraoui ,&nbsp;F. Bouldjennet ,&nbsp;N. Cherif ,&nbsp;Z. Kaci ,&nbsp;S. Louahchi ,&nbsp;C. Touil-Boukoffa ,&nbsp;R. Djidjik ,&nbsp;R. Raache","doi":"10.1016/j.genrep.2025.102404","DOIUrl":"10.1016/j.genrep.2025.102404","url":null,"abstract":"<div><div>Acute leukaemias are haematological neoplasms characterised by a steadily increasing incidence and high mortality, driven by the rapid proliferation of malignant blasts. Given that both the mechanisms of angiogenesis and the aetiology of these disorders remain poorly described and understudied in hematologic malignancies, we aimed to evaluate the potential role of polymorphisms in the endothelial nitric oxide synthase (<em>NOS3</em>) gene, both individually and in combination, on the risk and progression of acute leukaemia in Algerian patients.</div><div>To this end, we genotyped two <em>NOS3</em> gene polymorphisms: the Intron 4 b/a/c variable number tandem repeat (VNTR) polymorphism (rs61722009) and the -786 T &gt; C (rs2070744) promoter polymorphism in a cohort of 129 patients and 86 healthy controls. Genotyping was performed using agarose gel-based polymerase chain reaction PCR for VNTR polymorphism and polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) for the -786 T &gt; C variant. Statistical analyses were conducted using Fisher's exact test or the Chi-squared (χ2) test and odds ratios (OR) with 95 % confidence intervals (CI) were calculated.</div><div>Our results revealed no significant difference in allelic or genotypic frequencies of the -786 T &gt; C polymorphism between patients and controls (<em>p</em> &gt; 0.05). In contrast, the frequency of the b/b genotype and the b allele of the VNTR polymorphism was significantly lower in patients than in healthy control (<em>p</em> = 0.004, OR = 0.37 and <em>p</em> = 0.002, OR = 0.41 respectively). Conversely, the a allele was significantly more frequent in patients (<em>p</em> = 0.011, OR = 2.13). Furthermore, combined genotype and haplotype analyses showed that the multilocus genotype TC/4b4b (<em>p</em> = 0.004, OR = 0.41) was overrepresented among controls, whereas the C-4a haplotype (<em>p</em> = 0.021, OR = 3.91) was more prevalent in patients.</div><div>These findings highlight the potential role of NOS3 gene polymorphisms in susceptibility to acute leukaemia. In particular, the intron 4 b/a/c VNTR polymorphism may serve as a genetic susceptibility marker. Moreover, the C-a haplotype, formed by the -786 T &gt; C and intron 4 b/a/c variants, seems to be associated with an increased risk of disease progression, suggesting a possible synergistic effect between these polymorphisms.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102404"},"PeriodicalIF":0.9,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The emerging role of mitochondrial transcription termination factors (MTERFs) in tumorigenesis and progression in cancers","authors":"Jintao He ,&nbsp;Yaru Lin ,&nbsp;Wenbing Huang ,&nbsp;Ximin Tang ,&nbsp;Min Yu ,&nbsp;Zifeng Ruan ,&nbsp;Xingguo Liu ,&nbsp;Zhengliang Li ,&nbsp;Yanwen Wang ,&nbsp;Wei Xiong","doi":"10.1016/j.genrep.2025.102406","DOIUrl":"10.1016/j.genrep.2025.102406","url":null,"abstract":"<div><div>Mitochondrial transcription and its dysregulation are emerging as important factors in cancer biology, providing new insights into tumor metabolism and potential therapeutic targets. The protein family of human mitochondrial transcription termination factor (MTERF) is pivotal in controlling mitochondrial gene expression and oxidative phosphorylation (OXPHOS) activity. MTERF proteins impact mitochondrial metabolism and cell energy generation by regulating mtDNA replication, transcription, and involvement in assembling mitochondrial ribosomal subunits and synthesizing proteins. Growing research suggests that members of the MTERF family are crucial not just for regular cell function but also play a significant role in the onset and development of human cancers. The expression of these transcription factors is intimately linked to the growth, movement, and penetration of tumor cells, underscoring their possible significance in predicting clinical outcomes and treating cancer. Dysregulation of MTERFs directly leads to altered expression of mtDNA in cancer cells, resulting in cellular metabolic reprogramming and mitochondrial dysfunction. The article encapsulates the roles and fundamental processes of various MTERF family members across different tumor forms, seeking to lay a theoretical groundwork for additional studies on their involvement in tumor development, forecasting prognoses, and specific treatments.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102406"},"PeriodicalIF":0.9,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disruption of LINC00265/miR-101-3p axis using siRNA suppresses growth and promotes apoptosis in laryngeal cancer cells","authors":"Mohaddese Maghsudlu ,&nbsp;Masoumeh Razipour ,&nbsp;Elham Ghadami ,&nbsp;Ebrahim Karimi ,&nbsp;Elia Damavandi ,&nbsp;Negin Saeedi ,&nbsp;Farzad Yazdani Bioki ,&nbsp;Majid Kabuli ,&nbsp;Mohsen Ghadami","doi":"10.1016/j.genrep.2025.102405","DOIUrl":"10.1016/j.genrep.2025.102405","url":null,"abstract":"<div><h3>Background</h3><div>Laryngeal cancer is a prevalent malignancy of the head and neck, often associated with poor prognosis due to late diagnosis and therapeutic resistance. Emerging evidence highlights the important role of long non-coding RNAs (lncRNAs) in cancer progression, including LINC00265, which has been implicated in promoting tumor growth and metastasis in various cancers. Conversely, miR-101 functions as a tumor suppressor by targeting oncogenic pathways. Understanding the regulatory interaction between LINC00265 and miR-101 can provide new insights into disease biology.</div></div><div><h3>Methods</h3><div>We evaluated LINC00265 expression in 30 paired LSCC and adjacent normal tissues using qRT-PCR, which was followed by analyzing its correlation with clinicopathological features. To investigate LINC00265 functional effects, HN5 cells were transfected with LINC00265-specific siRNA, and afterward, cell viability and apoptosis were assessed through MTT assay and Annexin V/PI flow cytometry, respectively.</div></div><div><h3>Results</h3><div>Our results showed that LINC00265 was significantly overexpressed in LSCC tissues (2.52-fold increase, <em>p</em> &lt; 0.0129), which was correlated with larger tumor size and lymph node metastasis. Moderate diagnostic accuracy for metastasis detection was demonstrated by ROC analysis (AUC = 0.74, <em>p</em> = 0.0276). Moreover, the knockdown of LINC00265 in HN5 cells significantly reduced cell viability by 30 %, and increased apoptosis up to 36.03 % potentially through upregulation of miR-101 (1.53-fold, <em>p</em> = 0.0012).</div></div><div><h3>Discussion</h3><div>Our study proposes that LINC00265 might exert an oncogenic effect in LSCC by promoting tumor progression, potentially through miR-101 suppression. Its association with metastasis and larger tumor size suggests clinical relevance as a prognostic biomarker. The knockdown of LINC00265 demonstrated anti-proliferative and pro-apoptotic effects that could suggest its therapeutic potential for LSCC treatment.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"42 ","pages":"Article 102405"},"PeriodicalIF":0.9,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145786453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}