Gene Reports最新文献_第3页

Cycloxygenase-2 (−765G>C) gene polymorphism and risk of uterine fibroids in Egyptian women 环氧化酶-2 （- 765G>C）基因多态性与埃及妇女子宫肌瘤的风险

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-19 DOI: 10.1016/j.genrep.2025.102417

Afaf M Elsaid , Yasmeen M Elsayed , Ali H. Abu Almaaty , Mohamed I. Eid , Ahmed K. Hasan

Aim

Uterine fibroids (UFs), commonly referred to as “leiomyomas,” are the most prevalent benign tumors in premenopausal females. They are often associated with infertility and recurrent miscarriage. The objective of this study was to assess the potential of cycloxygenase-2 (COX-2) gene polymorphism as a risk factor for fibroid development.

Patients and methods

This study involved 200 individuals, categorized into two groups: 100 patients with fibroids and 100 age-matched healthy females serving as the control group. Genotyping of the COX-2 (−765G>C) single nucleotide polymorphism (SNP) was conducted using the tetra-amplification refractory mutation system (T-ARMS) PCR technique.

Results

The genotype distribution patterns of the COX-2-765G>C SNP exhibited substantial variances between patients and control groups, with patients demonstrating a higher prevalence of the GC genotype (78 % versus 48 %, p < 0.001) and an increased frequency of the C-allele (47 % versus 26 %, p < 0.001). The examination of the dominant and over dominant models of the COX-2 (G>C-765) mutation demonstrated a substantial correlation with fibroid risk in comparison to controls (p < 0.001 and 0.001, respectively). The incidence of hysterectomy following fibroid diagnosis was markedly elevated in the dominant model group 3 (p = 0.02), whereas 3the incidence of myomectomy was much greater in the recessive model group (p < 0.001).

Conclusions

A substantial correlation was identified between the −765G>C SNP in the COX-2 gene and uterine leiomyoma in Egyptian females, indicating that its potential regulatory role merits further examination. Identifying the genes associated with UFs may result in novel medications and maybe the avoidance of this condition.

子宫肌瘤（UFs），通常被称为“平滑肌瘤”，是绝经前女性最常见的良性肿瘤。它们通常与不孕症和复发性流产有关。本研究的目的是评估环氧化酶-2 （COX-2）基因多态性作为肌瘤发展的危险因素的潜力。患者和方法本研究涉及200人，分为两组：100名肌瘤患者和100名年龄匹配的健康女性作为对照组。采用T-ARMS PCR技术对COX-2（−765G>；C）单核苷酸多态性（SNP）进行基因分型。结果COX-2-765G>；C SNP的基因型分布模式在患者和对照组之间存在显著差异，患者表现出更高的GC基因型患病率（78%对48%，p < 0.001）， C等位基因的频率增加（47%对26%，p < 0.001）。对COX-2 （G>C-765）突变的显性和超显性模型的检查显示，与对照组相比，COX-2突变与肌瘤风险存在显著相关性（p <；分别为0.001和0.001）。显性模型组3诊断为肌瘤后子宫切除术的发生率明显升高（p = 0.02），而隐性模型组3诊断为肌瘤切除的发生率明显升高（p < 0.001）。结论COX-2基因- 765G>；C SNP与埃及女性子宫平滑肌瘤存在显著相关性，提示其潜在的调控作用值得进一步研究。确定与UFs相关的基因可能会导致新的药物，也许可以避免这种情况。

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引用次数: 0

Harnessing extracellular vesicle-associated proteins for osteoporosis: Mechanisms, therapeutic strategies, and clinical potential 利用细胞外囊泡相关蛋白治疗骨质疏松：机制、治疗策略和临床潜力

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-18 DOI: 10.1016/j.genrep.2025.102414

Suleiman Kolawole Yusuf , Abdulmajeed Isiaku , Adamu Abdul Abubakar , Nwachukwu Raymond Chinedu , Abdulfatai Aremu , Okediran Babatunde Samuel , Alhaji Zubair Jaji

Osteoporosis remains a major global health challenge characterized by bone fragility and limited regenerative capacity. Extracellular vesicles (EVs) have recently emerged as potent mediators of intercellular communication, capable of modulating bone remodeling through their protein cargo. Unlike prior reviews that emphasize RNA or general regenerative mechanisms, this article provides a protein-centric synthesis of how EV-associated proteins orchestrate osteoblast and osteoclast regulation via canonical pathways, including TGF-beta/Smad, MAPK, Wnt/beta-catenin, and PI3K/Akt. By integrating evidence from 60 in vitro, in vivo, and early clinical studies, we identify consistent trends that demonstrate mesenchymal stem cell-derived EVs promote osteoblast differentiation and mineralization while suppressing osteoclastogenesis, with delivery via hydrogels and scaffolds enhancing local retention and efficacy. Beyond summarizing preclinical data, this review highlights mechanistic convergence among EV protein cargo, comparative efficacy of delivery strategies, and a roadmap for translation addressing standardization, scalability, and regulatory challenges. Collectively, these insights position EV-associated proteins as versatile therapeutic effectors capable of bridging the gap between cellular therapy and precision drug delivery for osteoporosis.

骨质疏松症仍然是一个主要的全球健康挑战，其特点是骨骼脆弱和再生能力有限。细胞外囊泡（EVs）最近作为细胞间通讯的有效介质出现，能够通过其蛋白质货物调节骨重塑。与先前强调RNA或一般再生机制的综述不同，本文提供了以蛋白质为中心的合成，探讨了内皮细胞相关蛋白如何通过典型途径（包括tgf - β /Smad、MAPK、Wnt/ β -catenin和PI3K/Akt）协调成骨细胞和破骨细胞的调节。通过整合60项体外、体内和早期临床研究的证据，我们确定了一致的趋势，证明间充质干细胞衍生的ev促进成骨细胞分化和矿化，同时抑制破骨细胞的发生，通过水凝胶和支架输送增强局部保留和疗效。除了总结临床前数据外，本综述还强调了EV蛋白货物的机制趋同，递送策略的比较功效，以及解决标准化，可扩展性和监管挑战的翻译路线图。总的来说，这些见解将ev相关蛋白定位为多功能治疗效应器，能够弥合骨质疏松症细胞治疗和精确药物输送之间的差距。

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引用次数: 0

Transcriptional regulation of Toll-like Receptors in Pinna nobilis: Insights into immune response under varying pathogen loads and effect of individual variation 耳廓中toll样受体的转录调控：不同病原体负荷下的免疫反应和个体差异的影响

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-17 DOI: 10.1016/j.genrep.2025.102415

Athanasios Lattos , Stéphane Coupé , Dimitrios K. Papadopoulos , Ioannis A. Giantsis

Scientific community is currently witnessing one of the most dynamic extinction risks, i.e. that of the largest bivalve mollusk of the Mediterranean, Pinna nobilis. The role of possible different pathogens responsible for the mass mortalities driving this extinction risk represent a considerable debate among researchers. After extensive investigation of the etiological agents, by means of numerous microbiological, pathophysiological, environmental studies, as well as efforts to identify surviving populations, current research is attempting to focus on the characterization of resistant genotypes that could enable future recruitment. Recently, the first characterization of the genomic architecture of Toll-like receptor (TLRs) genes in the genus Pinna identified potential SNPs associated with disease resistance and, hence, with genotypes tolerant to mortalities. Nevertheless, gene characterization is a challenging task that requires investigation at multiple levels, including gene expression under different stressors. In this context, the present study investigates TLR gene transcription in Pinna nobilis populations infected by different pathogens, comparing single infection with co-infection. In a general agreement with the proposed role of TLR4 and TLR6 which host SNPs associated with resistant or susceptible Pinna genotypes, the current results demonstrate a statistically significant increased transcription of these genes in individuals infected with both Mycobacterium sp. and Haplosporidium pinnae, the two mostly accused pathogens, compared with specimens infected with Mycobacterium sp. solely. Since analyses were only based on mantle tissue, these transcriptional associations require confirmation by multi-tissue and protein-level studies to clarify the functional role of TLRs in Pinna nobilis immunity and disease resistance. To this end, after examination of a large number, 11 primer pairs were validated in terms of efficiency and stability and are proposed for usage in other populations as well.

科学界目前正在目睹最具活力的灭绝风险之一，即地中海最大的双壳类软体动物Pinna nobilis的灭绝。可能的不同病原体的作用负责大规模死亡驱动这种灭绝的风险代表了研究人员之间的相当大的争论。在通过大量微生物学、病理生理学、环境研究以及努力确定存活种群对病原进行广泛调查之后，目前的研究正试图集中于耐药基因型的特征，以便将来招募。最近，对海棠属toll样受体（TLRs）基因基因组结构的首次表征发现了与抗病相关的潜在snp，因此也与耐死亡的基因型相关。然而，基因表征是一项具有挑战性的任务，需要在多个层面进行研究，包括不同应激源下的基因表达。在此背景下，本研究对不同病原菌感染的大耳鸣群体的TLR基因转录进行了研究，并比较了单次感染和共次感染。与TLR4和TLR6的作用大致一致，TLR4和TLR6宿主snp与耐药或易感的耳鸣基因型相关，目前的结果表明，与单独感染分枝杆菌的标本相比，感染分枝杆菌和耳鸣单孢子虫这两种最常被指控的病原体的个体中，这些基因的转录在统计学上显著增加。由于分析仅基于套膜组织，因此这些转录关联需要通过多组织和蛋白质水平的研究来证实，以阐明tlr在耳廓免疫和抗病中的功能作用。为此，在对大量引物进行检测后，对11对引物的效率和稳定性进行了验证，并建议在其他种群中使用。

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引用次数: 0

Characterization of the mitochondrial genome of Fusarium oxysporum and comparative insights into Fusarium spp. mitochondrial evolution 尖孢镰刀菌线粒体基因组的特征及其线粒体进化的比较研究

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-17 DOI: 10.1016/j.genrep.2025.102416

Fatima Malik, Mahnoor Malik, Tehsin Fatma, Muhammad Faraz Bhatti

Background

Fusarium oxysporum is an important phytopathogenic fungus causing severe vascular wilts, rots, and damping off diseases in economically important plants. Mitogenomes have a very essential role in evolutionary biology, diversity and pathogenicity of organisms. This study is focused on the characterization of the complete mitochondrial genome of F. oxysporum strain P2A and its comparative analysis with the previously published Fusarium mitogenomes. High-throughput Illumina sequencing technology enabled the complete assembly and annotation of mitochondrial genome.

Results

The reported F. oxysporum strain P2A mitogenome is composed of a circular DNA molecule with a genome size of 46,257 bp and GC content of 32.7 %. It encodes 16 protein-coding genes (PCGs), 2 ribosomal RNA (rRNA) genes, 24 transfer RNA genes and 32 open reading frames encoding hypothetical proteins. Furthermore, group IB intron encoding a homing endonuclease (LAGLIDADG) was also found in the coding region of the mitogenome, indicating its dynamic structure. Comparative mitochondrial genomic analysis with six other closely related Fusarium species revealed that GC content, gene length, GC skew, and AT skew varied among core PCGs. The gene synteny analysis of Fusarium species showed several gene rearrangements. Among the 16 PCGs, nad4, nad4L, nad6 and cob had the lowest K2P genetic distance, indicating that these genes are highly conserved. Furthermore, it was observed that the majority of PCGs possessed Ka/Ks values below 1, suggesting that these genes were subjected to purifying selection. Phylogenetic analysis based on cox2 gene revealed that F. oxysporum strain P2A is most closely related to Fusarium verticillioids in the clade containing Leotiomycetes species.

Conclusions

The complete mitogenome of F. oxysporum strain P2A and its comparative analysis will contribute to the fast-evolutionary analysis and population genetics studies among Fusarium species.

摘要尖孢镰刀菌（fusarium oxysporum）是一种重要的植物病原真菌，在重要的经济植物中引起严重的维管束萎蔫、腐烂和病害。有丝分裂基因组在生物进化生物学、生物多样性和致病性等方面具有重要作用。本研究的重点是镰刀菌P2A菌株线粒体全基因组的特征及其与先前发表的镰刀菌有丝分裂基因组的比较分析。高通量Illumina测序技术实现了线粒体基因组的完整组装和注释。结果报道的尖孢镰刀菌P2A有丝分裂基因组由一个环状DNA分子组成，基因组大小为46,257 bp， GC含量为32.7%。它编码16个蛋白质编码基因（PCGs）， 2个核糖体RNA （rRNA）基因，24个转移RNA基因和32个编码假设蛋白质的开放阅读框。此外，在有丝分裂基因组的编码区也发现了编码归巢内切酶（LAGLIDADG）的IB组内含子，表明其动态结构。与其他6个近缘镰刀菌种的线粒体基因组比较分析显示，核心PCGs的GC含量、基因长度、GC偏度和AT偏度存在差异。镰刀菌属植物的基因同源性分析显示有几个基因重排。在16个PCGs中，nad4、nad4L、nad6和cob的K2P遗传距离最低，说明这些基因具有高度保守性。此外，我们观察到大多数PCGs的Ka/Ks值低于1，这表明这些基因受到了纯化选择的影响。基于cox2基因的系统发育分析表明，在含绒毛菌的支系中，尖孢镰刀菌P2A与黄萎病镰刀菌亲缘关系最为密切。结论镰刀菌P2A有丝分裂全基因组的构建及其比较分析将为镰刀菌的快速进化分析和群体遗传学研究提供依据。

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引用次数: 0

Integrated morphological, histological and transcriptomic profiling of papilla regeneration in the sea cucumber Apostichopus japonicus 海参乳头再生的形态学、组织学和转录组学综合分析

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-17 DOI: 10.1016/j.genrep.2025.102399

Wanrong Tian , Xiaonan Li , Xuan Liu , Junhui Wang , Qi Ye , Jinwei Zhao , Weiyan Li , Haoran Xiao , Yongjie Wang , Yinghui Li , Lingshu Han , Chong Zhao , Jun Ding

The sea cucumber (Apostichopus japonicus) 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 A. japonicus 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.

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 COL1A2, DMBT1, fibropellin-ia, TNXB, and KCP, 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 COL1A2, DMBT1) as crucial regulators of sea cucumber papillae regeneration.

海参（Apostichopus japonicus）是一种具有较高营养价值和经济价值的重要养殖品种。体表乳头是突出的体壁结构，其形态可以影响外观和商业分级，同时也具有再生能力。尽管它们具有重要意义，但日本刺参乳头再生的细胞和分子机制在很大程度上仍然未知。我们假设这一过程是由细胞外基质（ECM）重塑和进化保守的信号通路之间的动态相互作用精心策划的。为了验证这一点，本研究包括从海参中切除乳头，然后在实验后1、3、7、14和21天进行形态学、组织学和转录组学分析。形态学分析表明，再生21天后，海参乳头的外观与再生前几乎没有区别。组织学分析显示，在再生的第21天，组织基本恢复到正常状态。因此，乳头的再生周期约为21天。在海参乳头切除后1、3、7、14和21天对海参进行Illumina转录组分析。通过GO和KEGG数据库对差异表达基因进行分类和富集。这些结果表明，海参乳头的再生与细胞外基质的重建有关，而ecm受体相互作用信号通路在这一过程中起着关键作用。几个关键基因，如COL1A2、DMBT1、纤维蛋白蛋白缺失、TNXB和KCP，被确定为海参乳头再生的集体调节因子。海参表现出非凡的再生受损或丢失的组织和器官的能力。本研究确定了ecm受体相互作用途径和关键基因（如COL1A2、DMBT1）是海参乳头再生的重要调控因子。

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引用次数: 0

Impact of LMNA gene polymorphism (rs581342) on lung cancer susceptibility: Evidence from a southeast Iranian population LMNA基因多态性（rs581342）对肺癌易感性的影响：来自伊朗东南部人群的证据

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-14 DOI: 10.1016/j.genrep.2025.102411

Narges Karimi , Ali Afgar , Maryam Fekri Soufiabadi , Maryam Iranpour , Mohammad Reza Zangouey , Seyed Mehdi Hashemi Bajgani , Shahriar Dabiri

Background

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.

Method

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.

Results

Patients with small cell lung cancer (SCLC) were significantly older than those with non-small cell lung cancer (NSCLC) (P < 0.05), and males had a higher prevalence of lung cancer (P = 0.005). Genotype distribution differed between patients and controls (P = 0.001), but not between genders (P = 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 (P < 0.0001). The substantial deviation from Hardy–Weinberg equilibrium (χ² = 189.3, P < 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, P = 0.017) and genotype (P = 0.008) as significant predictors, while age showed borderline significance (P = 0.096).

Conclusion

The rs581342 polymorphism may serve as a genetic marker for lung cancer susceptibility and tumor differentiation, though not for histological subtype classification.

本研究旨在评估伊朗人群中rs581342多态性与肺癌风险之间的关系。此前没有研究调查过伊朗东南部的这种关系。方法对伊朗南部地区（2022-2024年）300例（150例肺癌患者和150例健康对照）进行病例对照研究。病例和对照组与性别和年龄相匹配。收集人口统计学变量、组织学亚型和肿瘤分化等级。采用ARMS-PCR方法对rs581342进行基因分型。统计分析包括卡方检验、logistic回归和Hardy-Weinberg均衡。结果小细胞肺癌（SCLC）患者年龄明显大于非小细胞肺癌（NSCLC）患者（P < 0.05），且男性肺癌患病率较高（P = 0.005）。基因型分布在患者和对照组之间存在差异（P = 0.001），但在性别之间无差异（P = 0.121）。TC基因型具有保护作用（OR = 0.29），而CC基因型具有增加风险（OR = 1.78）。与癌症亚型没有关联；然而，基因型分布与肿瘤分化密切相关（P < 0.0001）。与Hardy-Weinberg平衡的显著偏差（χ2 = 189.3, P < 0.0001）似乎反映了ARMS-PCR试验的方法学限制，而不是任何潜在的选择压力。Logistic回归证实性别（OR = 1.958, P = 0.017）和基因型（P = 0.008）是显著的预测因子，年龄具有临界显著性（P = 0.096）。结论rs581342多态性可作为肺癌易感性和肿瘤分化的遗传标记，但不能作为肺癌组织学亚型划分的遗传标记。

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引用次数: 0

A novel de novo WDR45 frameshift variant in early-onset developmental and epileptic encephalopathy with atypical MRI features 具有非典型MRI特征的早发性发育性和癫痫性脑病中一种新的WDR45移码变异

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-08 DOI: 10.1016/j.genrep.2025.102410

Firoz Ahmad , Sapna Sandal , Pradnya Gadgil , Suhani Shah , Amisha Shah , Meenu Angi , Pooja Chaudhary , Spandan Chaudhary , Neeraj Arora

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 de novo heterozygous pathogenic frameshift variant in WDR45 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 WDR45-related disorders. The findings underscore the importance of genetic testing in neurodevelopmental disorders with dysmorphism and refractory epilepsy.

我们报告了一个4岁1个月大的女性，她表现出复杂的神经发育障碍，表现为早发性癫痫和整体发育迟缓。癫痫发作始于9个月，发展为多种类型（局灶性、阵挛性和自动性），脑电图（EEG）显示左半球功能障碍。发育里程碑严重延迟，检查显示小头畸形，畸形（额部凸起，卡萨梅-奥-莱斑）和右侧感音神经性听力损失。脑磁共振成像（MRI）显示左侧显性萎缩，海马硬化，左侧颞白质高。全外显子组测序（WES）鉴定出WDR45 NM_001029896.2:c.229_230del；（Ile77Leufs*36），确认神经变性伴脑铁积累5型（NBIA5）。该变异在亲本和人群数据库中均不存在，被归类为致病性（美国医学遗传与基因组学学院（ACMG）： PVS1, PS2, pm2_support）。本病例强调了WES在诊断具有非典型神经影像学的儿童癫痫性脑病中的应用，并扩大了wdr45相关疾病的突变谱。这些发现强调了基因检测在畸形和难治性癫痫的神经发育障碍中的重要性。

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引用次数: 0

Antimicrobial resistance profile, resistance gene distribution, and genotypic characterization of clinical Pseudomonas aeruginosa isolates from hospitals in northern Iran 伊朗北部医院临床铜绿假单胞菌的抗微生物药物耐药性特征、耐药基因分布和基因型特征

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-08 DOI: 10.1016/j.genrep.2025.102409

Shayan Majidi , Fatemeh Zaboli , Rahem Khoshbakht , Esmail Fattahi , Mojtaba Khosravi

Pseudomonas aeruginosa 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 P. aeruginosa 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 oprD (100 %), sul1 (82.89 %), int1 (69.73 %), VIM (25 %), and bla_TEM (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 (P > 0.05). Overall, this study highlights the high prevalence of multidrug and carbapenem resistance P. aeruginosa (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.

铜绿假单胞菌是一种主要的机会性病原体负责广泛的医院获得性感染，表现出对多种抗生素的显著耐药性。本研究旨在调查从伊朗北部Amol各医院病房回收的铜绿假单胞菌的抗生素耐药模式、耐药相关基因和遗传多样性。采用纸片扩散法和微量肉汤稀释法对76株临床分离菌株进行药敏分析。采用表型分析和PCR方法分别测定了广谱β-内酰胺酶（ESBL）的产生和抗性基因谱。采用随机扩增多态性DNA (RAPD)-PCR评估基因型多样性。其中对氧苄西林（100%）、阿莫西林（96.05%）和氨苄西林/舒巴坦（86.84%）的耐药率最高，多粘菌素B（9.21%）和粘菌素（17.1%）的耐药率最高。碳青霉烯耐药16株（21.05%），ESBL产生菌26株（33.33%），多重耐药36株（47.36%），广泛耐药19株（25%）。常见的耐药基因包括oprD（100%）、sul1（82.89%）、int1（69.73%）、VIM（25%）和blaTEM（22.36%）。共鉴定出48种不同的抗性基因模式。RAPD-PCR分析显示，共有37个基因型（R-1 ~ R-37）具有较高的区分指数（0.9646），但基因型、抗性基因和表型抗性模式之间无显著相关性（P > 0.05）。总的来说，本研究强调了Amol医院中多药和碳青霉烯类耐药铜绿假单胞菌（P. aeruginosa， CRPA）分离株的高发率，并强调需要持续的分子监测和严格的感染控制措施，以防止耐药克隆的传播。

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引用次数: 0

MNK1 affects thermal tolerance capability via SNP alteration in its coding sequence region in scallops (Patinopecten yessoensis) 扇贝（Patinopecten yessoensis） MNK1通过其编码序列区域的SNP改变影响热耐受能力

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-05 DOI: 10.1016/j.genrep.2025.102407

Shaohua Liu , Jingsong Wang , Aoyu Fang , Linghui Yu , Huiqi Deng , Yaqing Chang , Yaoyao Zhan

To clarify the relationship between MNK1 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 Patinopecten yessoensis. Correlation of MNK1 gene expression and thermal tolerance capability was preliminary established by determining relative expression of MNK1 in both HN and HR groups. To further dissect the possible mechanism that MNK1 expression affects thermal tolerance capability in P. yessoensis, regular PCR (polymerase chain reaction) amplification and bioinformatics analyses were employed to compare structures of MNK1 coding sequence (CDS), predicted MNK1 transcript, and predicted MNK1 protein between HN and HR groups. The results showed that: 1) the relative expression of MNK1 gene in the gills of HR group was significantly lower than that of HN group (P < 0.05); 2) CDS analysis of MNK1 gene showed that there are three SNP sites at positions 652 (c.652 A > G), 659 (c.659 C > A), and 686 (c.686 C > A) of MNK1 CDS were different between HN and HR groups. Further analyses showed that all three identified SNPs exhibited a moderate polymorphism (0.25 ≤ PIC <0.5) with a distribution in line with the Hardy-Weinberg equilibrium state (P > 0.05). Compared with HN, the dominant genotype of the identified SNPs were AG (c.652 A > G), CA (c.659 C > A), and CA (c.686 C > A) in CDS of MNK1 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 > A site genotype changing from CC to CA. In conclusion, the results obtained in this study not only clarified the association between the MNK1 gene expression and the high-temperature tolerance capability in P. yessoensis, but also provide novel biomarkers for selective breeding of P. yessoensis with high-temperature tolerance trait.

为了阐明扇贝MNK1基因表达与耐热性之间的关系，采用高温（24℃）处理方法，从同一谱系的扇贝（Patinopecten yessoensis）中获得高温不耐受个体（HN）和高温耐受个体（HR）。通过测定hnh组和HR组MNK1的相对表达量，初步确定MNK1基因表达与热耐受能力的相关性。为了进一步探讨MNK1表达影响野檀耐热能力的可能机制，采用常规PCR （polymerase chain reaction，聚合酶链反应）扩增和生物信息学分析方法，比较了HN组和HR组间MNK1编码序列（CDS）的结构、MNK1转录物的预测以及MNK1蛋白的预测。结果表明：1)HR组MNK1基因在鱼鳃中的相对表达量显著低于HN组（P < 0.05）；2) MNK1基因的CDS分析显示，在652位点有3个SNP位点(c.652A >； G), 659 (c.659C >； A)，和686 （C .686）C >； A) MNK1 CDS在HN组和HR组之间存在差异。进一步分析表明，三个snp均表现出中等多态性（0.25≤PIC <0.5），分布符合Hardy-Weinberg平衡态（P > 0.05）。与HN相比，鉴定的SNPs的优势基因型为AG （c.652）A >； G), CA （c.659）C >； A)和CA （C .686）HR组MNK1基因CDS中的C >； A)。生物信息学分析表明，c.686基因突变可改变MNK1 mRNA的预测二级结构、氨基酸组成和MNK1蛋白的空间结构C >；一个位点基因型由CC变为CA。综上所述，本研究结果不仅阐明了野野梭菌MNK1基因表达与耐高温能力之间的关系，也为野野梭菌耐高温性状的选育提供了新的生物标记物。

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引用次数: 0

Increasing autologous conditioned serum growth factors and cytokine concentration: The use of poly lactic acid coated beads 提高自体条件血清生长因子和细胞因子浓度：使用聚乳酸包被珠

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports

Pub Date : 2025-12-05 DOI: 10.1016/j.genrep.2025.102408

Majid Zamani , Saeid Kaviani , Mehdi Yousefi , Saeid Abroun , Mohammad Hojjat-Farsangi , Behzad Pourabbas

Introduction

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.

Methods

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.

Results

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 (p < 0.05). However, no significant differences were observed in total protein or ion concentrations among the groups (p > 0.05).

Conclusion

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.

血液衍生物在再生医学中应用广泛。血液衍生物有多种类型，每种都有不同的特征。自体条件血清（ACS）由于其白细胞介素-1受体拮抗剂（IL-1Ra）的含量而被用于再生医学，特别是骨关节炎等炎症性疾病。本研究的目的是利用聚乳酸（PLA）包被珠制备ACS，并评价其对提高该血液衍生物生物分子含量的作用。方法将7名健康志愿者的血液分为三组，一组为无珠管，一组为未涂膜珠管，一组为涂膜珠管。无珠管立即离心，含珠管37℃孵育6 h后离心。分析血清样品的钠、钾、钙、镁离子浓度、总蛋白、血管内皮生长因子（VEGF）、表皮生长因子（EGF）、转化生长因子-β (TGF-β)、血小板源性生长因子（PDGF）、细胞因子白介素-1β (IL-1β)和IL-1Ra，以及IL-1Ra/IL-1β比值。结果与未包被微球及血清制备的ACS相比，包被微球制备的ACS中VEGF、TGF-β、EGF、PDGF、IL-1β、IL-1Ra浓度及IL-1Ra/IL-1β比值显著升高（p < 0.05）。但各组间总蛋白和离子浓度差异无统计学意义（p > 0.05）。结论聚乳酸包膜珠可提高ACS细胞中生长因子和细胞因子的浓度。在临床应用中，用pla包覆微球制备ACS的疗效有待进一步研究。

{"title":"Increasing autologous conditioned serum growth factors and cytokine concentration: The use of poly lactic acid coated beads","authors":"Majid Zamani , Saeid Kaviani , Mehdi Yousefi , Saeid Abroun , Mohammad Hojjat-Farsangi , 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> < 0.05). However, no significant differences were observed in total protein or ion concentrations among the groups (<em>p</em> > 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}

引用次数: 0