Nucleosides, Nucleotides & Nucleic Acids最新文献_第3页

Investigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey). 土耳其Kahramanmaras地区MEFV致病性变异体患者MEFV基因表达水平的研究

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-05-28 DOI: 10.1080/15257770.2025.2511104

Eda Ganiyusufoglu, Hasan Daglı, Metin Kılınc

{"title":"Investigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey).","authors":"Eda Ganiyusufoglu, Hasan Daglı, Metin Kılınc","doi":"10.1080/15257770.2025.2511104","DOIUrl":"10.1080/15257770.2025.2511104","url":null,"abstract":"The main objective of this study is to detect the variants in patients who were diagnosed with familial Mediterranean fever (FMF) according to Tel-Hashomer diagnostic criteria and investigated the relationship between genotype-phenotype and the gene expression levels of the Mediterranean fever (MEFV) gene. Variant screening was achieved by automated sanger sequencing, and expression levels of the MEFV gene were analyzed by quantitative real time polymerase chain reaction (RT-PCR). A total of 46 patients with MEFV gene pathogenic variants and 8 control individuals without any variants were enrolled in the study. The most commonly encountered variants in heterozygote genotype were M694V (n = 4), E148Q (n = 3), and M680I (n = 2); in compound heterozygote genotype were M694V/R202Q (n = 4), and R202Q/E148Q (n = 3); in complex heterozygote genotype were R202Q/M694V/M680I (n = 4) and R202Q/M694V/V726A (n = 3); in homozygote genotype were M680I/M680I (n = 7) and M694V/M694V (n = 4). The gene expression levels of the patients with homozygous variants were found to be significantly lower than the healthy control group and patients with heterozygous variants. In patients with M694V homozygous variants, where clinical manifestations are severe, a remarkable decrease in the gene expression of the MEFV gene was observed. It was detected that there was a relationship between the genotype and gene expression level and that the level of gene expression and clinical symptoms were inversely correlated in patients with FMF.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-14"},"PeriodicalIF":1.1,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144160676","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}

引用次数: 0

miR-508-5p regulates macrophage polarization via targeting TSGA10 to promote malignant behavior in esophageal cancer cells. miR-508-5p通过靶向TSGA10调控巨噬细胞极化，促进食管癌细胞的恶性行为。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-05-11 DOI: 10.1080/15257770.2025.2491561

Yuan Zhu, Zuojun Fu, Tianjiao Duan, Jing Wang, Lingjuan Zhang, Guisheng Liu, Xueyan Guo, Rong Zhang

{"title":"miR-508-5p regulates macrophage polarization via targeting TSGA10 to promote malignant behavior in esophageal cancer cells.","authors":"Yuan Zhu, Zuojun Fu, Tianjiao Duan, Jing Wang, Lingjuan Zhang, Guisheng Liu, Xueyan Guo, Rong Zhang","doi":"10.1080/15257770.2025.2491561","DOIUrl":"https://doi.org/10.1080/15257770.2025.2491561","url":null,"abstract":"Background: Esophageal cancer (EC) is among the deadliest malignancies in humans, with various miRNAs shown to regulate its progression by targeting distinct genes. miR-508-5p was identified as being linked to the malignant behavior of various tumors. Nevertheless, the precise role and mechanism of miR-508-5p in esophageal cancer (EC) remain ambiguous.Objective: This investigation focuses on the role and mechanism of the miR-508-5p/TSGA10 axis in the progression of EC.Methods: The expression of miR-508-5p and TSGA10 in EC cell lines was evaluated using quantitative Real-Time Polymerase Chain Reaction (qRT-PCR). Cell transfection techniques were used to knock down miR-508-5p and observe its effects on cell proliferation, migration, invasion, and apoptosis. A dual-luciferase reporter gene assay was conducted to verify the targeting relationship of miR-508-5p with TSGA10. Co-culture studies were undertaken to examine the regulatory effect of the miR-508-5p/TSGA10 axis on the polarization state of tumor-associated macrophages (TAMs) and the malignant behavior of EC cells.Results: The expression of miR-508-5p was significantly elevated in EC cells. Knocking down miR-508-5p curbed cell proliferation, migration, and invasion while promoting apoptosis. TSGA10 was validated as a primary target gene of miR-508-5p. miR-508-5p knockdown could inhibit the M2 polarization of TAMs by upregulating TSGA10, thereby suppressing the tumorigenic behavior of EC cells.Conclusion: miR-508-5p promotes the M2 polarization of TAMs and enhances the malignant behavior of EC cells by inhibiting TSGA10.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-15"},"PeriodicalIF":1.1,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012717","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}

引用次数: 0

Binding characterization of small protein-conjugated ssDNA aptamer to recombinant human ICAM-1. 小蛋白偶联的ssDNA适体与重组人ICAM-1的结合特性。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-05-07 DOI: 10.1080/15257770.2025.2500049

Nik Abdul Aziz Nik Kamarudin, Nurfadhlina Musa, Nur Fatihah Mohd Zaidi, Basyirah Ghazali, Mariana Ahamad, Satvinder S Dhaliwal, Khairul Mohd Fadzli Mustaffa

{"title":"Binding characterization of small protein-conjugated ssDNA aptamer to recombinant human ICAM-1.","authors":"Nik Abdul Aziz Nik Kamarudin, Nurfadhlina Musa, Nur Fatihah Mohd Zaidi, Basyirah Ghazali, Mariana Ahamad, Satvinder S Dhaliwal, Khairul Mohd Fadzli Mustaffa","doi":"10.1080/15257770.2025.2500049","DOIUrl":"10.1080/15257770.2025.2500049","url":null,"abstract":"This study investigates the potential of a protein-DNA aptamer conjugate to enhance aptamer binding to recombinant human intercellular adhesion molecule 1 (rhICAM-1). Aptamers are single-stranded nucleic acids that bind target molecules through hydrogen bonding and hydrophobic interactions. Conjugating aptamers with antibodies or proteins has been shown to improve their binding affinity. Using Systematic Evolution of Ligands by Exponential Enrichment (SELEX), eight rounds of selection were performed with ICAM-1-coupled Dynabeads Protein A, identifying a DI05 as having the strongest binding affinity to rhICAM-1. An antibody inhibition assay showed a significant reduction in rhICAM-1 binding to immobilized aptamers (DI05, DI20, DI31, and DI33). Additionally, the binding affinity of eGFP-conjugated DI05 to rhICAM-1 was higher than that of unconjugated DI05. Docking simulations revealed close contact between DI05 and ICAM-1, with interactions primarily mediated by hydrogen bonds within three hairpin structures at ≤2.8 Å. These findings highlight the potential of aptamer-small protein conjugates as a promising strategy to enhance aptamer binding characteristics.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-23"},"PeriodicalIF":1.1,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029611","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}

引用次数: 0

The magic bullet: a tribute to Fritz Eckstein. 神奇子弹：向弗里茨·埃克斯坦致敬。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-05-06 DOI: 10.1080/15257770.2025.2500048

Erik De Clercq

引用次数: 0

Bacteriophage-based gene delivery: a novel approach for targeted breast cancer therapy. 基于噬菌体的基因传递：靶向乳腺癌治疗的新方法。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-05-05 DOI: 10.1080/15257770.2025.2500042

Dilpreet Singh

{"title":"Bacteriophage-based gene delivery: a novel approach for targeted breast cancer therapy.","authors":"Dilpreet Singh","doi":"10.1080/15257770.2025.2500042","DOIUrl":"https://doi.org/10.1080/15257770.2025.2500042","url":null,"abstract":"Bacteriophage-based gene delivery systems are emerging as a promising alternative to traditional viral and non-viral vectors for targeted gene therapy in breast cancer. Their unique structural adaptability, low immunogenicity, and cost-effective production make them ideal candidates for precision medicine applications. Unlike conventional gene delivery platforms, bioengineered bacteriophages can be functionalized with tumor-specific ligands, modified for PEGylation to enhance circulation stability, and integrated with CRISPR/Cas9 gene-editing systems for precise genomic modifications. Additionally, bacteriophage vectors can be utilized in combination therapy, amplifying the effectiveness of chemotherapy and immunotherapy in breast cancer treatment. This mini-review discusses the bioengineering strategies used to enhance bacteriophage-based gene delivery, including surface modifications for tumor targeting, ligand-receptor binding for cellular uptake, and controlled genetic cargo release. We further examine in vitro and in vivo studies that demonstrate the potential of bacteriophage vectors in tumor suppression, gene expression efficiency, and immunomodulation. Furthermore, we explore the challenges and future directions of integrating bacteriophage-mediated gene therapy into clinical applications, addressing key issues such as systemic circulation half-life, off-target effects, and immune system interactions.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-19"},"PeriodicalIF":1.1,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032570","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}

引用次数: 0

LncRNA PGM5-AS1 inhibits the progression of breast cancer by inhibiting miR-182-5p. LncRNA PGM5-AS1通过抑制miR-182-5p抑制乳腺癌的进展。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-04-29 DOI: 10.1080/15257770.2025.2498642

Yonghui Zhang, Mingxi Chen, Xuan Zheng, Kejia Li, Zhi Li, Xuelian Li

{"title":"LncRNA PGM5-AS1 inhibits the progression of breast cancer by inhibiting miR-182-5p.","authors":"Yonghui Zhang, Mingxi Chen, Xuan Zheng, Kejia Li, Zhi Li, Xuelian Li","doi":"10.1080/15257770.2025.2498642","DOIUrl":"https://doi.org/10.1080/15257770.2025.2498642","url":null,"abstract":"LncRNAs serve as crucial regulators in the survival and proliferation of tumors. This study is dedicated to exploring the functional significance of lncRNA PGM5-AS1 in breast cancer (BRCA). First, the expression level of PGM5-AS1 in BRCA patients and its diagnostic ability for BRCA were analyzed by RT-qPCR and Receiver Operating Characteristic curve. Subsequently, LnCAR database was used to preliminarily explore the relationship between PGM5-AS1 and prognosis. Moreover, we investigated the effects PGM5-AS1 on proliferation, apoptosis, and migration of BRCA cells by MTT assay, flow cytometry, and Transwell assay. More importantly, the regulation effect of PGM5-AS1 on the downstream target miR-182-5p was verified by dual luciferase reporting experiment, and the role of miR-182-5p was further explored in vitro experiments. PGM5-AS1 is significantly decreased in both BRCA patients and BRCA cell lines. In the diagnosis of BRCA, the sensitivity and specificity of PGM5-AS1 were 81.5% and 78.5%. Furthermore, lower levels of PGM5-AS1 are associated with a poor prognosis for affected patients. In vitro studies demonstrate that the upregulation of PGM5-AS1 confers a protective effect against BRCA, markedly inhibiting the viability and migratory capacity of tumor cells. More importantly, overexpression of PGM5-AS1 inhibited the high expression of miR-182-5p in tumor cells. In fact, inhibition of miR-182-5p is detrimental to the proliferation and migration of BRCA cells in vitro. lncRNA PGM5-AS1 has potential as a diagnostic marker for BRCA and acts as an inhibitor in BRCA. It inhibits tumor proliferation and metastasis by targeting miR-182-5p.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-14"},"PeriodicalIF":1.1,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013236","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}

引用次数: 0

Gene therapy and gene therapy products introduced to market by 2022. 基因治疗和基因治疗产品将于2022年上市。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-04-10 DOI: 10.1080/15257770.2025.2489495

Cengiz Bereket, Imge Kunter, Elaheh Ashrafian Bonab, Ghazal Footohi

{"title":"Gene therapy and gene therapy products introduced to market by 2022.","authors":"Cengiz Bereket, Imge Kunter, Elaheh Ashrafian Bonab, Ghazal Footohi","doi":"10.1080/15257770.2025.2489495","DOIUrl":"https://doi.org/10.1080/15257770.2025.2489495","url":null,"abstract":"Gene therapy has revolutionized the concept of treating genetic disorders by addressing the root causes at the genetic level, becoming one of the most quickly evolving fields in medicine today, especially due to its long-term effects. Gene therapy for the treatment of diseases relies on strategies of gene suppression, overexpression, and editing using different tools such as CRISPR and RNA interference. The gene transfer methods are broadly classified into three categories: physical, chemical, and biological. The use of viral vectors, such as adenoviruses, retroviruses, and adeno-associated viruses, is prevalent in clinical settings due to their high efficiency. Safety remains as an issue, and risk mitigation strategies will continue to evolve from clinical data to minimize complications related to gene silencing and immunotoxicity. In this review, various aspects of gene therapy have been covered, such as in-vivo and ex-vivo gene therapy, gene transfer methods, safety issues, as well as the gene therapy products approved until 2022. This review lists 35 licensed gene therapy products, detailing their therapeutic uses, mechanism of action, and vectors employed. Each product illustrates the various applications and potentials of gene therapy against untreatable conditions. Continuous improvements in gene transfer methods, vector safety, and clinical applications will increase the impact of the technology and offer hope for effective treatment and possible cures for different genetic disorders.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-39"},"PeriodicalIF":1.1,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991797","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}

引用次数: 0

Do not sacrifice the snail-conservative DNA extraction for terrestrial gastropods based on periostracum fraction and pedal mucus. 不要牺牲蜗牛保守的DNA提取为陆生腹足动物基于骨膜部分和足部粘液。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-03-31 DOI: 10.1080/15257770.2025.2486368

Efstratios Efstratiou, Maria V Alvanou, Anthi Stoforiadi, Alexandra Staikou, Ioannis A Giantsis

{"title":"Do not sacrifice the snail-conservative DNA extraction for terrestrial gastropods based on periostracum fraction and pedal mucus.","authors":"Efstratios Efstratiou, Maria V Alvanou, Anthi Stoforiadi, Alexandra Staikou, Ioannis A Giantsis","doi":"10.1080/15257770.2025.2486368","DOIUrl":"https://doi.org/10.1080/15257770.2025.2486368","url":null,"abstract":"Tissue collection methods for sampling of biological material often present various drawbacks related to ethical concerns as well as to the conservation status of many species. In this study, a conservative noninvasive sampling technique for genetic analyses was developed and optimized in three terrestrial gastropod species, namely, Cornu aspersum, Eobania vermiculata, and Helix lucorum. Our approach involves the sampling of a minimal amount of periosteum and pedal mucus, providing a viable alternative that does not harm the organisms, combining a few modifications in DNA isolation procedures depending on the sample. Mitochondrial CO1 and 18S rRNA genes were successfully amplified from both pedal mucus and periostracum samples, as confirmed by sequencing and BLAST comparisons in GenBank database. Interestingly, among the different sample types, shell from dead individuals demonstrated the highest DNA purity and quantity, likely due to the lack of DNA binding. This nondestructive method provides a promising advancement for conservation genetics, allowing for the study of protected species while maintaining their survival and well-being. The results demonstrate that this technique is an efficient and ethically sound tool for genetic studies, with potential applications in biodiversity monitoring and conservation research.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-16"},"PeriodicalIF":1.1,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753858","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}

引用次数: 0

Prognostic value of miR-378c in hepatocellular carcinoma and its regulatory effect on tumor progression. miR-378c在肝癌中的预后价值及其对肿瘤进展的调控作用。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-03-26 DOI: 10.1080/15257770.2025.2481950

Yuanjie Bao, Haoxiang Zhu

{"title":"Prognostic value of miR-378c in hepatocellular carcinoma and its regulatory effect on tumor progression.","authors":"Yuanjie Bao, Haoxiang Zhu","doi":"10.1080/15257770.2025.2481950","DOIUrl":"https://doi.org/10.1080/15257770.2025.2481950","url":null,"abstract":"Objective: This study aimed to explore the diagnostic and prognostic value of miR-378c in hepatocellular carcinoma (HCC) patients.Methods: This study included 97 HCC patients, 84 cirrhosis patients and 80 healthy volunteers. Serum miR-378c of all subjects and HCC cell lines was detected by qRT-PCR, and ROC curves were plotted to assess the clinical diagnostic value of miR-378c for HCC. The prognostic performance of miR-378c in HCC was assessed using the Kaplan-Meyer method and COX regression analysis. CCK-8 test for proliferation of HCC cell lines. The migration and invasion of HCC cell lines were measured by Transwell assay. Bioinformatics analysis was employed to analyze the possible target genes of miR-378c.Results: Serum miR-378c were remarkably lower in HCC patients than in cirrhosis patients and healthy controls (p < 0.001). ROC curves indicated that serum miR-378c could effectively distinguish HCC patients from healthy controls and cirrhotic patients. Among HCC patients, those with high miR-378c expression had higher cumulative survival (p = 0.001), and COX analysis identified miR-378c as an independent prognostic biomarker for HCC. Overexpression of miR-378c significantly inhibited the proliferation, migration and invasion of MHCC97H and HepG2 cells (p < 0.01). Bioinformatics analysis of miR-378c target genes revealed that miR-378c target genes were enriched in tumor-associated pathways.Conclusion: Serum miR-378c expression is decreased in HCC patients and strongly connected with poor prognosis. As a potential diagnostic and prognostic biomarker for HCC patients, it may provide new insights into the diagnosis and prognosis of HCC.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-15"},"PeriodicalIF":1.1,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730957","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}

引用次数: 0

The 7436-bp mitochondrial DNA deletion as a risk factor for ulcerative colitis in the Iranian population. 7436 bp线粒体DNA缺失是伊朗人群溃疡性结肠炎的危险因素。

IF 1.1 4区生物学

Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-03-25 DOI: 10.1080/15257770.2025.2484317

Rasoul Zahmatkesh Roodsari, Zivar Salehi, Kazem Parivar, Farhad Mashayekhi, Keyvan Aminian

{"title":"The 7436-bp mitochondrial DNA deletion as a risk factor for ulcerative colitis in the Iranian population.","authors":"Rasoul Zahmatkesh Roodsari, Zivar Salehi, Kazem Parivar, Farhad Mashayekhi, Keyvan Aminian","doi":"10.1080/15257770.2025.2484317","DOIUrl":"https://doi.org/10.1080/15257770.2025.2484317","url":null,"abstract":"Ulcerative colitis (UC) is a chronic condition characterized by inflammation in the colon. Free radicals and oxidative stress play a significant role in the pathophysiology of UC. Excessive production of reactive oxygen species can damage the mitochondrial genome, leading to mutations such as the7436-bp deletion. The aim of this study was to identify the presence of the 7436-bp mtDNA deletion in patients with UC and its association with susceptibility to colon inflammation. This case-control study, included 195 patients with UC and 250 healthy individuals from the Iranian population. The Multiplex PCR method was used to detect the 7436-bp mtDNA deletion. Statistical analysis was performed using SPSS software. The frequency of 7436-bp mtDNA deletion in patients was 41.5% and 6.8% in healthy individuals. Statistical analysis showed a significant association between the frequency of the 7436-bp mtDNA deletion and UC (p = 0.016). Furthermore, a significant difference was found between the presence of this deletion and an increased risk of severe (p = 0.003) and extensive (p = 0.002) forms of UC. There was no statistically significant difference in the frequency of this deletion between younger patients and the control group. This study suggests that the presence of the 7436-bp mtDNA deletion is a risk factor for UC and plays a significant role in the pathogenesis of the disease. Further research involving larger and more diverse populations is necessary to validate or challenge these findings. Identifying these mutations can enhance our understanding of genetic factors influencing UC.","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-11"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710010","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}

引用次数: 0