Molecular Biology Reports最新文献

{"title":"Interleukin-37 polymorphism (rs3811047) in Egyptian patients with ulcerative colitis.","authors":"Amr A Zahra, Yasmeen A Mostafa, Essam A Hassan, Shymaa E Ayoub","doi":"10.1007/s11033-025-10771-1","DOIUrl":"https://doi.org/10.1007/s11033-025-10771-1","url":null,"abstract":"<p><strong>Background: </strong>Ulcerative colitis (UC), a chronic inflammatory bowel disease (IBD), is characterized by dysregulated mucosal immune responses. Although the precise cause of ulcerative colitis is yet unknown, immune system disruptions, environmental factors, and genetic predispositions all play a role in its pathogenesis. In an Egyptian patient population, this study is the first to examine a possible link between ulcerative colitis (UC) and the Interleukin-37 (IL-37) gene polymorphism (rs3811047).</p><p><strong>Methods: </strong>This case-control study enrolled a total of 80 participants, comprising 40 patients with ulcerative colitis (UC) and 40 healthy controls. Serum levels of interleukin-37 (IL-37) were quantified using ELISA. Additionally, genotyping of the IL-37 single nucleotide polymorphism rs3811047 was performed using real-time PCR.</p><p><strong>Results: </strong>Patients with ulcerative colitis (UC) had a significantly higher median serum IL-37 levels (90.25) compared to controls (70.00) (*p* = 0.004). Furthermore, IL-37 levels demonstrated a statistically significant positive correlation with the severity of the disease as assessed by the Partial MAYO score (*p* = 0.004), with the highest concentrations observed in severe cases relative to moderate, mild, or remission stages. Genetic analysis of the rs3811047 polymorphism revealed a higher prevalence of the GG genotype in UC patients compared to controls. A recessive genetic model showed a robust association with UC susceptibility (*p* = 0.018), whereas neither the dominant model nor individual allele frequencies (A vs. G) reached statistical significance (*p* > 0.05).</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"685"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584362","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":"Determination of residual DNA in decellularised aortas- towards fluorescence-based quantification of DNA purified by various methods.","authors":"Stefan Pentzold, Mengjin Li, Ana Lucia Paz Hernandez, Uta Dahmen","doi":"10.1007/s11033-025-10755-1","DOIUrl":"10.1007/s11033-025-10755-1","url":null,"abstract":"<p><strong>Background: </strong>Decellularisation of animal tissues is a promising strategy to obtain scaffolds for tissue engineering. However, double-stranded (ds)DNA of animal origin that may reside in tissue even after harsh decellularisation causes adverse reactions in patients. Thus, precise determination of residual dsDNA is essential, but challenging since the methods used for purification may affect quantification.</p><p><strong>Methods: </strong>To elucidate the best method for purifying and quantifying residual dsDNA in decellularised vessels, rat thoracic aortas were perfused with detergents (sodium dodecyl sulfate/sodium deoxycholate) with or without DNase I. Native aortas were used as control. Three different methods for purifying DNA (tissue lysate, salting out, silica-based solid-phase) were applied to assess dsDNA by fluorescence-based methods (PicoGreen, real-time QPCR, gel electrophoresis) or UV-spectrophotometry. Using tissue sections, H&E and fluorescent DAPI stainings for quantifying DNA were done additionally.</p><p><strong>Results: </strong>DNase I-perfused aortas contained significantly lower amounts of dsDNA compared to native controls or detergent-perfused aortas. PicoGreen on tissue lysate showed 85.2% and 80.8% reduction in residual DNA; salted out DNA showed 90.3% and 84.6% reduction. Similarly, DAPI showed 91.1% and 82.4% reduction in DNA. QPCR reflected decreased concentration and fragmentation of residual DNA for salted out DNA, but not for solid-phase DNA. Gel electrophoresis using both purifications confirmed decreased DNA concentration and increased fragmentation, whereas spectrophotometry showed limited overall usability.</p><p><strong>Conclusion: </strong>Fluorescence-based DNA quantification using PicoGreen is useful for all three DNA purifications from decellularised aortas, and the only method applicable to tissue lysate. In turn, salted out DNA can be used reliably for PicoGreen, real-time QPCR and gel electrophoresis. Spectrophotometry is not recommended irrespective of the DNA purification. Complementary DAPI-based DNA quantification using tissue sections is advisable.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"682"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12238089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.","authors":"Safiye Yildiz, Ramadhani Chambuso, George Rebello, Raj Ramesar","doi":"10.1007/s11033-025-10750-6","DOIUrl":"10.1007/s11033-025-10750-6","url":null,"abstract":"<p><strong>Background: </strong>Colorectal cancer (CRC) remains a significant global health challenge, with rising incidence among early-onset cases in low- and middle-income countries, including South Africa. However, comprehensive germline genetic data from indigenous African populations remain scarce. This study aimed to explore germline genetic factors contributing to early-onset CRC (eoCRC) in Indigenous African patients using whole exome sequencing (WES).</p><p><strong>Methods and results: </strong>We performed WES on blood-derived genomic DNA from 32 Indigenous African patients diagnosed with eoCRC (< 50 years), who previously tested negative on a multigene CRC panel. While preliminary but definitive, pathogenic variants were identified in only 5 patients (16%) across genes such as C6, FAT1, LZTR1, PYCR1, and UGT1A7. A substantial proportion (47%, n = 15) carried variants of uncertain significance (VUS) with strong pathogenic potential (\"leaning pathogenic\") in genes ASXL1, CHEK2, ERBB2, ERCC4, INSR, KIT, MITF, NOTCH1, NOTCH2, PDGFRA, RAD51B, RAD54L, RASA1, RECQL, SUFU, VEGFA, and WT1. Comparative analysis with public datasets and recurrent findings suggests these leaning pathogenic VUSs may represent true disease-associated variants, currently may be misclassified due to limited representation of African genomes in reference databases.</p><p><strong>Conclusions: </strong>Our findings reveal a high burden of potentially pathogenic VUSs in indigenous African patients with eoCRC, reflecting both unique genetic architecture and a critical gap in global genomic equity. These variants may contribute to future variant reclassification and improved understanding of CRC predisposition in African populations. This study underscores the urgent need for population-specific genomic research and the development of inclusive variant databases to support accurate diagnosis and personalised care.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"684"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12238126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recent insights into actinobacteria research in antimicrobial resistance: a review.","authors":"Kavin Raja M, Subathra Devi C","doi":"10.1007/s11033-025-10797-5","DOIUrl":"https://doi.org/10.1007/s11033-025-10797-5","url":null,"abstract":"<p><p>Antimicrobial resistance (AMR) has emerged as a global health crisis, taking 4.71 million lives in the year 2021 and posing significant challenges to healthcare systems. Actinobacteria, particularly Streptomyces sp., are a well-established source of bioactive secondary metabolites, including antibiotics such as polyketides, aminoglycosides, and macrolides with activity against multidrug-resistant (MDR) bacteria. However, only 10% of the antibiotic genes are expressed, and others are silent in cryptic biosynthetic gene clusters (BGCs) that remain inactive under standard laboratory conditions. Advances in genome mining, bioinformatics tools like antiSMASH, and molecular techniques such as CRISPR-Cas have facilitated the identification of these clusters. Furthermore, innovative strategies such as co-culturing and HDAC inhibitors have shown promise in activating cryptic biosynthetic pathways to combat emerging antimicrobial resistance. Despite these advancements, the rapid evolution of resistance requires continuous research and global collaboration to ensure a sustainable pipeline of effective antibiotics. This review provides insight into actinobacteria-derived antibiotics, resistance mechanisms, and emerging biotechnological interventions to address the AMR crisis, underscoring the urgent need for multidisciplinary antibiotic discovery and stewardship efforts.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"683"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584364","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":"MicroRNA-451: A multifaceted regulator in cerebral and cardiac ischemia-reperfusion injury - from molecular mechanisms to therapeutic potential.","authors":"Fei-Xiang Wang, Zu-An Shi, Zi-Hang Yu, Bin Lu, Guo Mu","doi":"10.1007/s11033-025-10756-0","DOIUrl":"https://doi.org/10.1007/s11033-025-10756-0","url":null,"abstract":"<p><p>Ischemia-reperfusion injury (IRI) represents a major clinical challenge across various organ systems, with especially severe and often irreversible consequences in cardiac and cerebral tissues. Despite advances in understanding its pathophysiology, effective therapeutic strategies remain limited. MicroRNA-451 (miR-451), a highly conserved non-coding RNA located on human chromosome 17q11.2, has emerged as a critical regulator of key pathophysiological processes underlying IRI, including inflammation, immune cell function, oxidative stress, and programmed cell death. This review comprehensively examines the complex and sometimes paradoxical roles of miR-451 in cardiac and cerebral IRI. We explore miR-451's potential as both a diagnostic biomarker and therapeutic target in IRI management, highlighting innovative approaches such as exosome-mediated miR-451 delivery. Finally, we address critical challenges in translating miR-451-based therapies to clinical practice and outline promising directions for future research. This comprehensive analysis provides a theoretical framework for developing novel miR-451-focused strategies for IRI detection and treatment, with significant implications for improving outcomes in ischemic disorders.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"681"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584363","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":"Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.","authors":"Nadia E Ali, Nabeela Tariq, Gul Naz, Adil Abalkhail, Tasleem Kausar, Ismail Mazhar, Sana Zia, Amjad I Aqib, Najeeb Ullah Khan","doi":"10.1007/s11033-025-10802-x","DOIUrl":"10.1007/s11033-025-10802-x","url":null,"abstract":"<p><p>Rett syndrome (RTT) is a devastating X-linked neurodevelopmental disorder, primarily affecting females, caused by mutations in the MECP2 gene. After a brief period of normal development, affected children experience rapid regression, losing motor and communication skills. Core features include microcephaly, seizures, stereotypic hand movements, and breathing abnormalities. While rooted in neurological dysfunction, growing evidence reveals RTT's widespread impact extends beyond the brain, implicating MECP2 in multisystem disruption. This review provides a comprehensive overview of RTT's genetic and neuropathological basis and highlights the significant advances in gene therapy to restore MECP2 function. Notably, adeno-associated virus (AAV)-based approaches have shown promise in preclinical models by improving survival and motor function in RTT mouse models. Recent advancements in AAV vector design have optimized targeted delivery to neurons and enhanced the regulation of MECP2 expression to prevent overexpression-related toxicity. Additionally, nanoparticle-based delivery systems are being explored as non-viral alternatives, offering the potential for improved targeting and safety. These advancements in gene therapy hold promise for RTT, bringing the possibility of effective targeted treatments closer to clinical application. As research continues to unravel RTT's complex pathophysiology, emerging therapies may offer new hope for improving patient outcomes and quality of life.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"687"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584365","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":"The upregulation of miR-21-5p in atherosclerotic plaque.","authors":"Selin Unal, Berk Arapi, Suat Nail Omeroglu, Vahid Rouhi, Mehmet Guven","doi":"10.1007/s11033-025-10790-y","DOIUrl":"https://doi.org/10.1007/s11033-025-10790-y","url":null,"abstract":"<p><strong>Background: </strong>Atherosclerosis refers to a complex arterial condition characterized by inflammation and vascular remodeling leading to plaque formation. It is driven by dysregulated inflammatory pathways, endothelial dysfunction, and abnormal cholesterol metabolism associated with lifestyle risk factors. Because atherosclerosis is a major heart disease risk factor, identifying biomarkers is critical. MicroRNAs regulate gene expression and are implicated in disease pathogenesis. This study investigates the roles of miR-193b-3p, miR-21-5p, and miR-484 in atherosclerotic plaque pathogenesis.</p><p><strong>Methods & results: </strong>A gene expression analysis was performed utilizing the reverse RT-qPCR (transcription-quantitative polymerase chain reaction) technique on samples collected from atherosclerotic plaques in the carotid artery (CAP tissue) and non-atherosclerotic internal mammary arteries (IMA tissue) of 50 patients diagnosed with both coronary artery disease and carotid artery disease. A marked difference was found in the levels of miR-21-5p (p = 0.0001), with CAP tissue showing a 21.96-fold increase in miR-21-5p expression compared to IMA tissue. In contrast, the expression levels of the miR-193b-3p and miR-484 genes did not exhibit any significant differences between the CAP and IMA samples. In CAP tissue, there were strong positive correlations observed between miR-193b-3p and miR-484 (r = 0.99, p < 0.0001), miR-484 and miR-21-5p (r = 0.83, p < 0.0001), and miR-193b-3p and miR-21-5p (r = 0.77, p < 0.0001).</p><p><strong>Conclusions: </strong>Altering miRNA expression in the artery offers a promising approach to impact plaque formation through multiple mechanisms, all by targeting a single molecule. Nevertheless, additional studies are required to validate the pharmacological and diagnostic capabilities of these miRNAs.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"686"},"PeriodicalIF":2.6,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584366","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":"Complete Chloroplast genome of Mentha aquatica reveals hypervariable regions and resolves phylogenetic position within the genus Mentha.","authors":"Aboozar Soorni, Mohammad Mehdi Golchini","doi":"10.1007/s11033-025-10789-5","DOIUrl":"https://doi.org/10.1007/s11033-025-10789-5","url":null,"abstract":"","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"677"},"PeriodicalIF":2.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575913","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 protein adenylyltransferase as a therapeutic target for combating ESKAPE pathogens in hospital-acquired infections.","authors":"Reabetswe Maake, Sarah Otun, Ikechukwu Achilonu","doi":"10.1007/s11033-025-10735-5","DOIUrl":"10.1007/s11033-025-10735-5","url":null,"abstract":"<p><strong>Introduction: </strong>In the face of increasing antimicrobial resistance, ESKAPE pathogens-Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, and Enterobacter species-pose a significant threat to public health, particularly in nosocomial settings.</p><p><strong>Areas covered: </strong>This review explores the potential of targeting protein adenylyltransferase (PrAT) as a therapeutic strategy against these multidrug-resistant bacteria. We discuss the mechanisms of PrAT activity, its involvement in reduction-oxidation (redox) homeostasis, and the rationale for its potential as a drug target against ESKAPE pathogens.</p><p><strong>Expert opinion: </strong>PrAT plays an essential role in sustaining the bacterium's redox homeostasis, a vital aspect of bacterial survival, by interacting with glutaredoxin (Grx). Future research should focus on elucidating the specific role of PrAT in ESKAPE pathogens, with an emphasis on studying the enzyme's function and designing targeted inhibitors. This review underscores the importance of continued investigation into PrAT in ESKAPE pathogens as a critical step in addressing the challenges of antimicrobial resistance in clinical practice.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"680"},"PeriodicalIF":2.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12234641/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of Interleukin 37 and its polymorphism (rs3811047) in children with type I diabetes.","authors":"Amany M Shabaan, Doaa A Gaber, E L Shaimaa Gomaa Ali, Rehab G Abd El-Hamid, Omayma O Abdelaleem","doi":"10.1007/s11033-025-10779-7","DOIUrl":"https://doi.org/10.1007/s11033-025-10779-7","url":null,"abstract":"<p><strong>Background: </strong>Type 1 diabetes (T1D) is a multifaceted autoimmune condition. Interleukin-37 (IL-37), a cytokine from the IL-1 family, is recognized for its anti-inflammatory effects and its involvement in the progression of various autoimmune diseases (ADs). Despite this, the exact relationships are not fully clear. The objective of this study was to assess serum IL-37 levels and the polymorphism (rs3811047) to investigate its possible role in T1D.</p><p><strong>Methods: </strong>The study involved 46 individuals with Type 1 Diabetes (T1D) and 45 healthy controls. Serum IL-37 levels were quantified using enzyme-linked immunosorbent assay (ELISA). Genomic DNA was extracted with a specialized DNA extraction kit. The specific single nucleotide polymorphism (SNP) in the IL-37 gene (rs3811047) was then genotyped using real-time polymerase chain reaction (RT-PCR).</p><p><strong>Results: </strong>The serum concentrations of IL-37 did not show a significant difference between individuals with T1D and the control group, with a P-value of 0.7. However, our results revealed a significant correlation between T1D and the IL-37 polymorphism (rs3811047). Both the AG and GG genotypes were strongly associated with an elevated risk of developing T1D in comparison to the control group. Furthermore, the frequency of the G allele in rs3811047 was notably higher in the T1D group (56.5%) compared to the control group (32.2%).</p><p><strong>Conclusions: </strong>These findings suggest that the rs3811047 variant in the IL-37 gene is a significant genetic marker linked to an increased susceptibility to T1D. The AG and GG genotypes, along with the G allele, are associated with a higher risk.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"678"},"PeriodicalIF":2.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575916","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}