Journal of Genetic Engineering and Biotechnology最新文献_第8页

Expression and interaction of RNA binding protein HuR with multidrug transporters (P-GP, MRP1, and ABCG2) in chemoresistant breast and colorectal cancer cells RNA结合蛋白HuR与多药转运体（P-GP、MRP1和ABCG2）在化疗耐药乳腺癌和结直肠癌细胞中的表达和相互作用

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-13 DOI: 10.1016/j.jgeb.2025.100594

Sudipta Deb Nath , Md. Mahmudul Hasan Akash , Md Tamzid Hossain Tanim , Sharif Akhteruzzaman , Mohammad Golam Mostafa , Abu Ashfaqur Sajib

Background

Chemoresistance poses a significant challenge in cancer treatment. Over expression of efflux pumps is one of the primary mechanisms that confer chemoresistance. P-GP, MRP1, and ABCG2, which are important ABC efflux pumps, collectively facilitate the transportation of a wide range of chemotherapeutic drugs out of cells. HuR is known to regulate the expression of various oncogenes through several ways, such as enhancing mRNA trafficking, facilitating mRNA stabilization, and protein translation. This study aimed to investigate the expression pattern of HuR as well as the co-expression pattern of ABC transporters (P-GP, MRP1, and ABCG2) with HuR in chemoresistant breast and colorectal cancer tissues to gain insights into the mechanisms of chemoresistance.

Methods

Immunofluorescence imaging as well as bioinformatic tools were used in this study to understand the expression and co-expression patterns of HuR protein and P-GP, MRP1, and ABCG2 in paired case-control chemoresistant samples.

Results

A substantial difference was observed in the level of HuR expression between chemoresistant and control tissues obtained from breast and colorectal cancer patients. The mean relative HuR expression in breast and colorectal chemoresistant tissues was 19.2 and 5.29 times greater, respectively, compared to control tissues. Linear regression analysis revealed that the expression of the ABC efflux transporters (P-GP, MRP1, and ABCG2) is proportional to HuR protein expression in chemoresistant breast and colorectal cancer tissues. Molecular docking analyses between RNA recognition motif (RRM) of the HuR protein and AU-rich elements (ARE) from the 3ʹUTR of P-GP, MRP1, and ABCG2 mRNA suggested stable binding of HuR to the 3ʹUTR of the three ABC transporters.

Conclusion

The observed overexpression of HuR in chemoresistant tissues suggests its association with chemoresistance mechanisms. Besides, HuR might facilitate posttranscriptional mRNA stabilization of P-GP, MRP1, and ABCG2, which makes it a potential therapeutic target to improve treatment outcomes in chemoresistant patients.

化疗耐药是癌症治疗面临的重大挑战。外排泵的过度表达是导致化疗耐药的主要机制之一。P-GP、MRP1和ABCG2是重要的ABC外排泵，它们共同促进多种化疗药物运输出细胞。已知HuR通过几种方式调节各种癌基因的表达，如增强mRNA运输，促进mRNA稳定和蛋白质翻译。本研究旨在探讨HuR在化疗耐药乳腺癌和结直肠癌组织中的表达模式以及ABC转运体（P-GP、MRP1和ABCG2）与HuR的共表达模式，以了解化疗耐药的机制。方法采用免疫荧光成像和生物信息学手段，了解HuR蛋白与P-GP、MRP1和ABCG2在配对病例对照化疗耐药样本中的表达和共表达模式。结果在乳腺癌和结直肠癌患者化疗耐药组织与对照组织中，HuR的表达水平有显著差异。与对照组织相比，乳腺和结直肠化疗耐药组织的平均相对HuR表达量分别高出19.2倍和5.29倍。线性回归分析显示，在化疗耐药的乳腺癌和结直肠癌组织中，ABC外排转运蛋白（P-GP、MRP1和ABCG2）的表达与HuR蛋白的表达成正比。HuR蛋白的RNA识别基序（RRM）与P-GP、MRP1和ABCG2 mRNA 3′UTR中的富au元件（ARE）的分子对接分析表明，HuR与三种ABC转运体的3′UTR稳定结合。结论在化疗耐药组织中观察到的HuR过表达提示其与化疗耐药机制有关。此外，HuR可能促进P-GP、MRP1和ABCG2转录后mRNA的稳定，这使其成为改善化疗耐药患者治疗结果的潜在治疗靶点。

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引用次数: 0

An Escherichia coli strain with recombinant Aspergillus spp. pectinase activity for application in bioscouring 具有重组曲霉果胶酶活性的大肠杆菌菌株在生物洗涤中的应用

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-13 DOI: 10.1016/j.jgeb.2025.100585

Anik Biswas , Samayeta Sarkar Tuli , Rasheda Begum Dina , Md. Tamzid Hossain Tanim , Reefa Nawar , Tahmia Akter , Kaniz Fatema , Papia Haque , Abu Ashfaqur Sajib

Background

Traditional scouring processes involve chemicals and heat, which have a negative environmental footprint with the potential to harm the environment as well as human health. Enzymes offer an environment-friendly and low-energy-consuming alternative method for textile fabric processing, which is important for sustainable development.

Results

In this study, molecular biology tools were applied to express an endopolygalacturonase enzyme (pectinase) from Aspergillus steynii in Escherichia coli and assess its pectinolytic activity in vitro and on textile fabrics. Pectinolytic activity on fabric was evident in the wicking test, Fourier transform infrared spectroscopy, and field emission scanning electron microscopy.

Conclusion

This previously unreported enzyme has a relatively shorter sequence, which is supposed to pose less metabolic load in the host, but has a structure characteristic of greater stability under stressful conditions. This recombinant pectinase enzyme holds promise to be a potential bioscouring agent.

传统的洗涤过程涉及化学品和热量，这对环境有负面影响，有可能危害环境和人类健康。酶为纺织品加工提供了一种环保、低能耗的替代方法，对可持续发展具有重要意义。结果应用分子生物学方法在大肠杆菌中表达了一种来自斯泰伊曲霉的内聚半乳糖醛酸酶（果胶酶），并对其在体外和织物上的果胶溶酶活性进行了评价。在吸湿试验、傅里叶变换红外光谱和场发射扫描电镜中，织物的果胶溶解活性明显。结论该酶序列较短，对宿主的代谢负荷较小，但在应激条件下具有较强的稳定性。这种重组果胶酶有望成为一种潜在的生物洗净剂。

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引用次数: 0

Elucidating the functional significance of catalytic and chitin-binding domains for the anti-cancer property of a bacterial endochitinase 阐明催化和几丁质结合结构域对细菌几丁质内切酶抗癌特性的功能意义

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-13 DOI: 10.1016/j.jgeb.2025.100596

Ankita Shrivastava , Manik Goel , Md Fahim Khalid, Priyamedha Yadav, Suroj Maharjan, Rinkoo Devi Gupta

Chitinases are enzymes that facilitate the breakdown of chitin and also interact with carbohydrate moieties such as heparin sulphate due to structural similarity with chitin, thereby influencing cell adherence and migration. Bacterial endo-chitinase contains several domains, such as a catalytic domain, an FNIII domain, and a chitin-binding domain. Recent studies have demonstrated the anti-cancer property of catalytically active chitinases; however, the mechanism and targets have not yet been explored. Therefore, this study investigates the importance of the catalytic and chitin-binding domains of a bacterial endo-chitinase (ChiC) for the anti-cancer property by creating domain-specific mutants. Initially, an in silico study identified an evolutionarily conserved tryptophan (W300) within the catalytic cleft of ChiC, which was subjected to site-directed mutagenesis to create an inactive ChiC mutant. Similarly, another ChiC mutant was created without the chitin-binding domain. The recombinantly expressed WT and mutant ChiC proteins were utilized to analyze their effects on the cell viability, cell cycle, and migratory and invasive behaviour of MCF-7 cells. The mutants of ChiC, lacking either catalytic property or chitin-binding domain, resulted in a loss of their ability to inhibit cell proliferation and migration. These observations suggest that the catalytic and chitin-binding domains are essential for exhibiting anti-proliferative and anti-migratory effects, providing insights for future therapeutic applications.

几丁质酶是一种促进几丁质分解的酶，由于与几丁质结构相似，几丁质酶还能与硫酸肝素等碳水化合物相互作用，从而影响细胞粘附和迁移。细菌内切几丁质酶包含几个结构域，如催化结构域、FNIII结构域和几丁质结合结构域。近年来的研究表明，催化活性几丁质酶具有抗癌特性；然而，其作用机制和作用靶点尚未探索。因此，本研究通过创建结构域特异性突变体来研究细菌内切几丁质酶（ChiC）的催化和几丁质结合结构域对抗癌特性的重要性。最初，一项计算机研究在ChiC的催化裂口中发现了一个进化上保守的色氨酸（W300），该色氨酸受到定点诱变以产生无活性的ChiC突变体。同样，另一个没有几丁质结合结构域的ChiC突变体被创造出来。利用重组表达的WT和突变的ChiC蛋白分析其对MCF-7细胞活力、细胞周期、迁移和侵袭行为的影响。ChiC突变体缺乏催化特性或几丁质结合结构域，导致其抑制细胞增殖和迁移的能力丧失。这些观察结果表明，催化和几丁质结合结构域对于显示抗增殖和抗迁移作用是必不可少的，为未来的治疗应用提供了见解。

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引用次数: 0

Investigating the role of oncogenic FAM83A as a prognostic biomarker in lung adenocarcinoma: Insights from smoker and non-smoker cohorts 研究致癌基因FAM83A作为肺腺癌预后生物标志物的作用：来自吸烟者和非吸烟者队列的见解

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-08 DOI: 10.1016/j.jgeb.2025.100581

Prithvi Singh , Aanchal Rathi , Mohammad Masood , Md.Imtaiyaz Hassan , Mohammad Mahfuzul Haque , Ravins Dohare , Anas Shamsi

Lung adenocarcinoma (LUAD) in smokers and non-smokers presents distinct clinical characteristics, including differences in genetics, treatment response, and prognosis. To explore these differences, we conducted a meta-analysis using publicly accessible LUAD datasets, identifying meta-differentially expressed genes (DEGs) in smokers and non-smokers. A total of

29

meta-DEGs were discovered, with seven (CLDN2, CLDN18, CYP4B1, CYP4X1, FAM83A, HLF, and PLA2G1B) demonstrating prognostic significance in the TCGA-LUAD cohort. Among these, FAM83A was particularly noteworthy for its amplification in LUAD samples and its negative correlation with immune cell infiltration. Functional enrichment analysis revealed key pathways, such as cytochrome P450 metabolism and cell–cell adhesion, which may be critical in LUAD progression. Our findings highlight FAM83A as a potential prognostic biomarker with significant implications for treatment strategies, especially concerning immune modulation. This study offers a more comprehensive insight into the molecular differences in LUAD in smokers and non-smokers and lays the groundwork for targeted therapies tailored to these subgroups.

肺腺癌（LUAD）在吸烟者和非吸烟者中表现出不同的临床特征，包括遗传学、治疗反应和预后的差异。为了探索这些差异，我们使用可公开访问的LUAD数据集进行了荟萃分析，确定吸烟者和非吸烟者的元差异表达基因（DEGs）。共发现29个meta- deg，其中7个（CLDN2、CLDN18、CYP4B1、CYP4X1、FAM83A、HLF和PLA2G1B）在TCGA-LUAD队列中具有预后意义。其中FAM83A在LUAD样品中的扩增尤其值得注意，且与免疫细胞浸润呈负相关。功能富集分析揭示了关键途径，如细胞色素P450代谢和细胞-细胞粘附，这可能是LUAD进展的关键。我们的研究结果强调FAM83A是一种潜在的预后生物标志物，对治疗策略具有重要意义，特别是在免疫调节方面。这项研究为吸烟者和非吸烟者LUAD的分子差异提供了更全面的见解，并为针对这些亚群的靶向治疗奠定了基础。

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引用次数: 0

Assessment of peripheral gene expression signatures as predictive biomarkers for hepatocellular carcinoma following DAA treatment 肝细胞癌DAA治疗后外周血基因表达特征作为预测性生物标志物的评估

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-08 DOI: 10.1016/j.jgeb.2025.100583

Rehab I. Moustafa , Sally Farouk , Noha G. Bader El Din , Hend I. Shousha , Ahmed Khairy , Yasser K. Elesnawy , Heba Shawky , Ahmed M. Gabr , Ashraf O. Abdelaziz , Amr Abdelaal , Hassan Elsayed

Hepatocellular carcinoma (HCC) is a major cause of cancer mortality worldwide, with viral hepatitis accounting for about 80 % of incidences. In Egypt, HCV contributes to 63 % of HCC cases. Although DAAs have achieved high SVR rates, they do not eliminate the risk of HCV-related HCC. Persistent epigenetic changes induced by HCV-infection may establish an “oncogenic memory” that promotes HCC even after viral clearance. Peripheral blood mononuclear cells (PBMCs) offer a non-invasive platform for detecting systemic immune and oncogenic signatures, aiding HCC risk assessment. This study aimed to characterize the expression of an epigenetically induced gene panel, comprising JUNB, WNT10A, SPHK1, EDN1, and KLF4 in hepatic tissues and PBMCs from Egyptian HCC patients with HCV genotype 4 who achieved SVR. In silico analyses revealed strong epigenetic associations of these genes, including links to histone-modifying enzymes, protein–protein interaction networks, and enrichment in cancer-related pathways. Gene expression was analyzed using qRT-PCR in SVR individuals, chronic HCV patients, and healthy controls, with diagnostic performance evaluated using multivariate regression and ROC curve analyses. Our results showed significant upregulation of WNT10A, SPHK1, JUNB, and EDN1 and downregulation of KLF4 in PBMCs, particularly post-SVR. PBMC expression showed high diagnostic accuracy (AUROC > 0.92 for SPHK1, WNT10A, JUNB). In conclusion, combining PBMC gene expression profiling with in-silico analyses highlights JUNB, WNT10A, SPHK1, EDN1, and KLF4 as promising non-invasive biomarker panel for HCC risk in DAA-SVR patients, reflecting their integration into epigenetic and oncogenic networks and supporting their potential for risk stratification and therapeutic targeting.

肝细胞癌（HCC）是全球癌症死亡的主要原因，其中病毒性肝炎约占80%的发病率。在埃及，丙型肝炎病毒占HCC病例的63%。尽管daa已达到较高的SVR率，但它们并不能消除hcv相关HCC的风险。由丙型肝炎病毒感染引起的持续表观遗传改变可能建立一种“致癌记忆”，即使在病毒清除后也能促进HCC的发生。外周血单个核细胞（PBMCs）为检测全身免疫和致癌特征提供了非侵入性平台，有助于HCC风险评估。本研究旨在表征表观遗传诱导的基因组，包括JUNB， WNT10A, SPHK1， EDN1和KLF4在实现SVR的埃及HCV基因型4 HCC患者的肝组织和PBMCs中的表达。计算机分析揭示了这些基因的强表观遗传关联，包括与组蛋白修饰酶、蛋白质相互作用网络和癌症相关途径中的富集的联系。采用qRT-PCR分析SVR个体、慢性HCV患者和健康对照的基因表达，并采用多变量回归和ROC曲线分析评估诊断效果。我们的研究结果显示WNT10A、SPHK1、JUNB和EDN1在pbmc中显著上调，KLF4下调，尤其是在svr后。PBMC表达具有较高的诊断准确性（SPHK1、WNT10A、JUNB的AUROC >； 0.92）。总之，结合PBMC基因表达谱和计算机分析，JUNB、WNT10A、SPHK1、EDN1和KLF4是DAA-SVR患者HCC风险的有前途的非侵入性生物标志物，反映了它们与表观遗传和致癌网络的整合，并支持它们在风险分层和治疗靶向方面的潜力。

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引用次数: 0

Microencapsulation of Annona crassiflora extract using maltodextrin: Material design and evaluation of antioxidant, antiglycation, and antiaging properties in vitro and in silico 麦芽糖糊精微胶囊化番荔枝提取物：材料设计及抗氧化、抗糖化和抗衰老性能的体外和硅评价

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-07 DOI: 10.1016/j.jgeb.2025.100579

Kamille Daleck Spera , Pedro Henrique Gorni , João Luiz Bronzel-Junior , Filipe Oliveira Granero , Célia Cristina Malaguti Figueiredo , Hugo Henrique Santos , Luciana Pereira Silva , Patrizia Perego , Paulo Eduardo Amaral Debiagi , Nilson Nicolau-Junior , Regildo Márcio Gonçalves da Silva

Annona crassiflora, a native Brazilian Cerrado fruit tree, is rich in bioactive compounds, particularly phenolic compounds and flavonoids, known for their antioxidant capabilities. The research addresses the limitations of seasonal fruit production by exploring the bioactive potential of leaves, aiming for sustainable harvesting practices. In view of this, the study aimed to investigate the antioxidant, antiglycation, and antiaging properties of A. crassiflora leaf extract (AcHE), exploring its potential for microencapsulation using maltodextrin. The methodology included the preparation of a hydroethanolic extract (AcHE) from A. crassiflora leaves, phytochemical analysis to determine total polyphenol, flavonoid, and tannin content using spectrophotometric techniques and GC–MS analysis. Antioxidant activity was assessed through DPPH radical scavenging, ferric ion reducing power (FRAP), inhibition of lipid peroxidation (TBARS assay), nitric oxide radical scavenging activity, and oxidative hemolysis tests. Antiglycation activity was evaluated by quantifying free amino groups using the OPA method in a glycation reaction mixture of bovine serum albumin (BSA) and ribose. The study showed the efficacy of AcHE in preventing oxidative stress, glycation, and premature aging, which are linked to chronic diseases. It also demonstrated the optimization of the microencapsulation process with maltodextrin, showing enhanced stability, bioavailability, and efficacy of the bioactive compounds present in A. crassiflora leaves for potential applications in the food, pharmaceutical, and cosmetic industries.

番荔枝是巴西塞拉多地区的一种原生果树，富含生物活性化合物，尤其是酚类化合物和类黄酮，以其抗氧化能力而闻名。该研究通过探索叶子的生物活性潜力来解决季节性水果生产的局限性，旨在实现可持续的收获实践。鉴于此，本研究旨在研究苦参叶提取物（AcHE）的抗氧化、抗糖化和抗衰老特性，并探讨其应用麦芽糊精微胶囊化的潜力。方法包括从草叶中提取水乙醇提取物（AcHE），利用分光光度法和GC-MS分析测定总多酚、类黄酮和单宁含量。通过清除DPPH自由基、铁离子还原能力（FRAP）、抑制脂质过氧化（TBARS试验）、清除一氧化氮自由基活性和氧化溶血试验来评估抗氧化活性。用OPA法定量测定牛血清白蛋白（BSA）和核糖糖基化反应混合物中的游离氨基，评价其抗糖基化活性。该研究显示，乙酰胆碱酯在预防氧化应激、糖基化和早衰方面的功效，这些都与慢性疾病有关。该研究还证明了麦芽糊精微胶囊化工艺的优化，显示了草叶中生物活性化合物的稳定性、生物利用度和功效，在食品、制药和化妆品行业具有潜在的应用前景。

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引用次数: 0

Genome-wide characterization and seasonal modulation of Hsp60 expression in juvenile Hilsa Shad across distinct upstream habitats 不同上游生境鲥鱼幼鱼Hsp60表达的全基因组特征和季节性调节

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-07 DOI: 10.1016/j.jgeb.2025.100586

Md.Toasin Hossain Aunkor , Afroza Pervin , Md.Nazmul Hasan , Zobada Kanak Khan , Rakibul Islam Akanda , Mohammad Mehedi Hasan Khan , Kazi Mohammad Ali Zinnah , Md.Faruque Miah

Heat shock protein 60 acts as a molecular chaperone that assists in proper protein folding under stress conditions. However, its genomic features and temperature-responsive behavior have not yet been studied in Hilsa Shad. In this study, we employed both computational and experimental approaches to investigate the genomic, proteomic, and expression dynamics of Hsp60 in this ecologically and economically important anadromous species. We identified three distinct gene copies which showed high sequence similarity compared to the Hsp60 gene of the well-studied three-spined stickleback. The physico-chemical properties, gene structure, functional domains and motifs, and sequence alignment were analyzed to characterize the paralogs. The phylogenetic analysis and structural modeling further confirmed their close evolutionary relationship and high structural similarity. However, Hilsa juvenile experience winter in the Meghna river in February and autumn in the Surma river in September due to their upstream migration. Notably, all three Hsp60 gene paralogs were significantly upregulated in the gill and liver during the warmer autumn season. While the level of relative expression was moderate in muscle and modest in kidney. This finding suggests a strong role for these genes in the thermal stress response of Hilsa Shad in the Surma river. In addition to, it demonstrates the role of Hsp60 in maintaining homeostasis in juvenile Hilsa Shad under fluctuating environmental conditions. It also aligns with the established role of heat shock proteins in thermal biology, where Hsp60 facilitates cellular protection and adaptation of juvenile Hilsa Shad to changing thermal regimes.

热休克蛋白60作为一种分子伴侣，在应激条件下帮助适当的蛋白质折叠。然而，其基因组特征和温度响应行为尚未在Hilsa Shad中研究。在这项研究中，我们采用计算和实验两种方法研究了Hsp60在这种生态和经济上重要的溯河产卵物种中的基因组学、蛋白质组学和表达动态。我们鉴定出三个不同的基因拷贝，与研究充分的三棘棘鱼的Hsp60基因序列相似。分析了其理化性质、基因结构、功能域和基序、序列比对等特征。系统发育分析和结构建模进一步证实了它们密切的进化关系和高度的结构相似性。然而，希尔萨幼崽由于上游迁徙，2月在梅克纳河过冬，9月在苏尔马河过冬。值得注意的是，在温暖的秋季，所有三种Hsp60基因在鳃和肝脏中都显着上调。而在肌肉和肾脏中相对表达水平中等。这一发现表明，这些基因在苏尔玛河Hilsa Shad的热应激反应中起着重要作用。此外，它还证明了Hsp60在波动环境条件下维持鲥鱼幼鱼体内平衡的作用。这也与热休克蛋白在热生物学中的既定作用一致，其中Hsp60促进了Hilsa Shad幼鱼对不断变化的热环境的细胞保护和适应。

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引用次数: 0

Comprehensive examination of demographic, psychological, cognitive, biochemical, and genetic profiles of methamphetamine addicts 甲基苯丙胺成瘾者的人口学、心理、认知、生化和遗传特征的综合检查

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-07 DOI: 10.1016/j.jgeb.2025.100564

Haider K. Hussain , Yolanda Loarce Tejada , Anna Barbaro

Methamphetamine (MA) addiction is a serious public health concern with wide-ranging neurobiological and behavioral effects. This study aimed to assess the demographic, psychological, cognitive, biochemical, and genetic profiles of individuals with methamphetamine dependence, focusing on neurotransmitter levels and the expression of addiction- and aggression-related genes. Sixty male methamphetamine users and thirty age-matched healthy controls were recruited. Participants underwent psychological assessments, cognitive testing, and biochemical evaluation of serotonin and dopamine levels using ELISA. Gene expression of SLC6A4 and COMT was quantified via real-time PCR. Significant alterations were observed in the methamphetamine group compared to controls, including reduced serotonin (17.1 ± 3.1 vs. 20.5 ± 3.2 ng/mL; p = 0.002) and dopamine levels (46.3 ± 7.2 vs. 52.4 ± 6.5 ng/mL; p = 0.015), as well as down-regulation of SLC6A4 (0.64-fold vs. 1.00; p = 0.001) and up-regulation of COMT (1.47-fold vs. 1.00; p = 0.028). These biochemical and genetic changes were correlated with increased aggression and cognitive impairments. The findings underscore the impact of prolonged MA use on neurochemical balance and gene expression, contributing to the development of aggressive behaviors and addictive patterns. Tailored treatment strategies that integrate genetic and psychological profiling, along with longitudinal monitoring, are essential to address the multifactorial nature of methamphetamine addiction and improve clinical outcomes.

甲基苯丙胺（MA）成瘾是一个严重的公共卫生问题，具有广泛的神经生物学和行为影响。本研究旨在评估甲基苯丙胺依赖个体的人口学、心理、认知、生化和遗传特征，重点关注神经递质水平和成瘾和攻击相关基因的表达。招募了60名男性冰毒使用者和30名年龄匹配的健康对照者。参与者使用ELISA进行了心理评估、认知测试和血清素和多巴胺水平的生化评估。实时荧光定量PCR检测SLC6A4和COMT的基因表达。与对照组相比，甲基苯丙胺组血清素（17.1±3.1比20.5±3.2 ng/mL, p = 0.002）和多巴胺水平（46.3±7.2比52.4±6.5 ng/mL, p = 0.015）降低，SLC6A4下调（0.64倍比1.00,p = 0.001）， COMT上调（1.47倍比1.00,p = 0.028）。这些生化和遗传变化与攻击性和认知障碍的增加有关。研究结果强调了长期使用MA对神经化学平衡和基因表达的影响，有助于攻击性行为和成瘾模式的发展。结合遗传和心理分析以及纵向监测的量身定制的治疗策略对于解决甲基苯丙胺成瘾的多因素性质和改善临床结果至关重要。

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引用次数: 0

Genetic differentiation of Pisang Awak subvarieties and genetic variation among ‘Mali-Ong’ plantlets in Thailand using RAPD and SRAP markers 利用RAPD和SRAP标记对泰国“麻荔ong”植株的遗传变异及Pisang Awak亚种的遗传分化

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-03 DOI: 10.1016/j.jgeb.2025.100577

Thanita Boonsrangsom , Kawee Sujipuli , Duangporn Premjet

Banana (Musa spp.) is a globally important fruit crop, with most cultivated varieties originating from hybridizations between M. acuminata (A genome) and M. balbisiana (B genome). Triploid ABB hybrids, carrying two B-genome and one A-genome sets, are valued for their stress tolerance and adaptability. In Thailand, ‘Kluai Namwa’ (Pisang Awak) is the most widely cultivated ABB cultivar, but it shows considerable phenotypic variation across subvarieties. Because morphological classification is often unreliable, molecular tools are needed to assess genetic identity and diversity. A total of 28 Thai banana genotypes, representing the AA, BB, and ABB genome groups, were analyzed using RAPD and SRAP markers. RAPD produced 109 bands with 93.6 % polymorphism, while SRAP generated 278 bands with 92.5 % polymorphism, indicating substantial genetic variation. The mean polymorphic information content was 0.22 for RAPD and 0.24 for SRAP, confirming the discriminatory power of both marker systems. UPGMA clustering separated the genotypes into two major clusters corresponding to A- and B-genome contributions, a structure further supported by PCoA. Distinctive bands, such as RAPD primer S7 (2.50 kb) and SRAP combination Me6/Em8 (0.80 kb), specifically identified ‘Kluai Hak Muk’ cooking bananas, demonstrating the potential of these markers for cultivar authentication. The genetic stability of 16 ‘Kluai Namwa Mali-Ong’ plantlets from different locations was also evaluated. Results revealed high clonal uniformity (mean similarity = 0.858) with only minor variation, likely reflecting localized cultivation practices. Overall, RAPD and SRAP markers proved effective for genome identification, diversity assessment, and clonal stability monitoring in Thai bananas. These tools will support banana breeding, germplasm conservation, and reliable authentication of high-value cultivars.

香蕉（Musa spp.）是一种全球重要的水果作物，大多数栽培品种起源于M. acuminata （a基因组）和M. balbisiana （B基因组）的杂交。三倍体ABB杂交种具有2组b基因组和1组a基因组，具有较强的抗逆性和适应性。在泰国，“Kluai Namwa”（Pisang Awak）是种植最广泛的ABB品种，但它在亚种之间表现出相当大的表型差异。由于形态学分类往往是不可靠的，需要分子工具来评估遗传身份和多样性。利用RAPD和SRAP标记分析了泰国香蕉共28个基因型，分别代表AA、BB和ABB基因组群。RAPD产生109个条带，多态性为93.6%，SRAP产生278个条带，多态性为92.5%，遗传变异较大。RAPD的平均多态性信息含量为0.22，SRAP的平均多态性信息含量为0.24，证实了两种标记系统的区分能力。UPGMA聚类将基因型分为A和b基因组贡献的两个主要簇，PCoA进一步支持了这一结构。RAPD引物S7 （2.50 kb）和SRAP组合Me6/Em8 （0.80 kb）等独特的条带特异性地鉴定了“Kluai Hak Muk”烹饪香蕉，表明这些标记在品种鉴定方面具有潜力。并对不同产地的16个‘Kluai Namwa Mali-Ong’植株的遗传稳定性进行了评价。结果表明，克隆均一性较高（平均相似度= 0.858），变异较小，可能反映了栽培方式的局限性。总的来说，RAPD和SRAP标记在泰国香蕉的基因组鉴定、多样性评估和克隆稳定性监测方面是有效的。这些工具将为香蕉育种、种质资源保存和高价值品种的可靠鉴定提供支持。

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引用次数: 0

Detection of FMR1 CGG Repeat Expansions Using Buccal Swab and Blood Samples of Children With Intelectual Disability in A Resource-Limited Country 资源有限国家智障儿童口腔拭子和血液样本检测FMR1 CGG重复扩增

IF 2.8 Q3 Biochemistry, Genetics and Molecular Biology

Journal of Genetic Engineering and Biotechnology

Pub Date : 2025-10-02 DOI: 10.1016/j.jgeb.2025.100582

Siti F. Aulia , Mentari Amir , Intan Razari , Kinasih Prayuni , Wan Nedra , Ndaru A. Damayanti , Nurmayani Irwandi , Ahmad Utomo , Vivienne J. Tan , Samuel S. Chong , Sultana M.H. Faradz

Fragile X Syndrome (FXS), the most common inherited intellectual disability, is caused by CGG-repeat expansions in the FMR1 gene. In resource-limited settings such as Indonesia, the absence of systematic screening programs complicates early detection. This study compared the performance of buccal swab and blood samples in detecting FMR1 repeat expansions to facilitate non-invasive screening. A total of 164 male students with intellectual disabilities in Jakarta provided paired buccal swab and blood samples. Conventional PCR was used for initial screening, followed by Triplet-Primed PCR (TP-PCR) with Melt Curve Analysis (MCA) and sizing confirmation by fluorescent TP-PCR and capillary electrophoresis. Conventional PCR identified 159 normal alleles, three grey zones, and two full mutations, resulting in an FXS prevalence of 1.22 %. A perfect concordance was observed between buccal swab and blood samples (Cohen’s Kappa = 1.000). Additional TP-PCR MCA analysis on 80 selected samples revealed inconsistencies in buccal swab results, with 12 cases classified as indeterminate, suggesting potential DNA quantity and/or quality issues. These findings indicated that buccal swabs are a feasible, non-invasive sampling method to screen FXS via conventional PCR, though further optimization is required for TP-PCR MCA. This study represents the first FXS screening in Jakarta, emphasizing the importance of early detection and scalable genetic testing strategies, particularly in resource-limited settings.

脆性X综合征（FXS）是最常见的遗传性智力残疾，是由FMR1基因的cgg重复扩增引起的。在印度尼西亚等资源有限的国家，缺乏系统的筛查方案使早期发现变得复杂。本研究比较了口腔拭子和血液样本检测FMR1重复扩增的性能，以促进非侵入性筛查。雅加达共有164名智障男学生提供了配对的口腔拭子和血液样本。采用常规PCR进行初步筛选，然后采用熔体曲线分析（MCA）的三重引物PCR （TP-PCR）和荧光TP-PCR和毛细管电泳进行施胶鉴定。常规PCR检测到159个正常等位基因，3个灰色区，2个全突变，FXS患病率为1.22%。口腔拭子与血液样本完全吻合（Cohen’s Kappa = 1.000）。对80个选定样本的额外TP-PCR MCA分析显示口腔拭子结果不一致，其中12例分类为不确定，提示潜在的DNA数量和/或质量问题。这些结果表明，口腔拭子是一种可行的、无创的取样方法，通过传统的PCR筛选FXS，尽管TP-PCR MCA需要进一步优化。这项研究代表了雅加达的第一次FXS筛查，强调了早期发现和可扩展的基因检测策略的重要性，特别是在资源有限的环境中。

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引用次数: 0