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miR-4478 Promotes Ferroptosis of Nucleus Pulposus Cells through Targeting SLC7A11 to Induce IVDD. miR-4478通过靶向SLC7A11诱导IVDD促进髓核细胞铁下垂。
IF 1.1 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071010029
Dongliang Gong, Long Jia, Yuhang Wang, Chengwei Xu, Xuxing Sun, Xiao Wu, Xiaojun Han
{"title":"miR-4478 Promotes Ferroptosis of Nucleus Pulposus Cells through Targeting SLC7A11 to Induce IVDD.","authors":"Dongliang Gong, Long Jia, Yuhang Wang, Chengwei Xu, Xuxing Sun, Xiao Wu, Xiaojun Han","doi":"10.14712/fb2025071010029","DOIUrl":"https://doi.org/10.14712/fb2025071010029","url":null,"abstract":"<p><p>Nucleus pulposus cells (NPC) are important for the development of intervertebral disc degeneration (IVDD). miR-4478 can aggravate IVDD, but whether it can aggravate IVDD by regulating ferroptosis in NPC remains unclear. The optimal level of ferroptosis activator RSL3 for eliciting ferroptosis in NPC was screened by Western blot and CCK-8 assay. The targeting relationship between miR-4478 and its potential target solute carrier family 7 member 11 (SLC7A11) was explored based on dual luciferase assay. On this basis, IVDD models were constructed. After over-expression or knockdown of miR-4478 or SLC7A11, CCK-8 and calcein-AM/PI assays were employed to evaluate cell damage. Flow cytometry, Western blot and Prussian blue staining were employed to evaluate oxidation and ferroptosis levels, and histopathological staining was applied to evaluate the intervertebral disc tissue injury degree. The optimal concentration of RSL3 was 1 μM. Under these conditions, miR-4478 or SLC7A11 can be effectively over-expressed or knocked down after transfection. Knockdown of miR-4478 can improve the survival rate of NPC, the level of Fe2+ ions, improve the pathological damage of intervertebral disc structure, reduce iron deposition in tissues, and significantly reduce expression of reactive oxygen species (ROS) and ferroptosis-related protein. The levels of antioxidant enzymes were significantly increased. When miR-4478 was over-expressed, the above phenomenon was reversed. On this basis, after SLC7A11 was over-expressed, the effect of miR-4478 up-regulation was weakened, and NPC ferroptosis was improved. miR-4478 can target SLC7A11 to promote NPC damage, peroxide accumulation and iron metabolism disorders, leading to ferroptosis, thereby inducing IVDD.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 1","pages":"29-43"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
PCAT7 Enhances Doxorubicin Resistance of Osteosarcoma by Modulating TGF-β Signalling. PCAT7通过调节TGF-β信号传导增强骨肉瘤阿霉素耐药性
IF 0.6 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025.0003
Bin Fang, Yongde Chen, Zi Li, Haitao Sun, Sheng Wei
{"title":"PCAT7 Enhances Doxorubicin Resistance of Osteosarcoma by Modulating TGF-β Signalling.","authors":"Bin Fang, Yongde Chen, Zi Li, Haitao Sun, Sheng Wei","doi":"10.14712/fb2025.0003","DOIUrl":"https://doi.org/10.14712/fb2025.0003","url":null,"abstract":"<p><p>Long noncoding RNAs (lncRNAs) are known to play critical roles in the progression of osteosarcoma. Despite their recognized importance, the specific biological functions of lncRNAs in osteosarcoma remain unclear. In this context, prostate cancer-associated transcript 7 (PCAT7) has been identified as a bone metastasis-related lncRNA through the analysis of The Cancer Genome Atlas dataset. In this study, we investigated the expression of PCAT7 in osteosarcoma cells, particularly those exhibiting resistance to doxorubicin, a widely used chemotherapeutic agent in clinic. Functional assays including cell growth, invasion and apoptosis were conducted to elucidate the impact of PCAT7 inhibition on osteosarcoma cells, focusing on sensitivity to doxorubicin treatment. To understand the underlying molecular mechanisms, the interaction between PCAT7, miR-324-5p, and the TGF-β/SMAD signalling pathway was further explored. The study revealed that PCAT7 is up-regulated in osteosarcoma cells with doxorubicin resistance. Inhibition of PCAT7 could enhance the sensitivity to doxorubicin treatment by reducing cell growth, suppressing cell invasion and increasing cell apoptosis. Mechanistically, PCAT7 was shown to activate the TGF-β/SMAD signalling pathway by up-regulating the expression of TGFBR1 through sponging miR-324-5p. These findings unveil a novel mechanism contributing to the constitutive activation of TGF-β signalling in osteosarcoma. Targeting PCAT7 may offer a promising avenue for therapeutic interventions in osteosarcoma by disrupting the aberrant TGF-β signalling, thus presenting a potential strategy to improve treatment outcomes in this challenging cancer.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 4","pages":"171-179"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145862493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endothelium and Systemic Inflammation in Neonates and Children. 新生儿和儿童的内皮和全身性炎症。
IF 1.1 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071020055
Petr Janec, Jana Dorňáková, Jan Živný, Jan Janota
{"title":"Endothelium and Systemic Inflammation in Neonates and Children.","authors":"Petr Janec, Jana Dorňáková, Jan Živný, Jan Janota","doi":"10.14712/fb2025071020055","DOIUrl":"https://doi.org/10.14712/fb2025071020055","url":null,"abstract":"<p><p>The endothelium plays a crucial role in maintaining vascular homeostasis. Inflammation is initiated by activation of endothelial cells, which results in endothelial dysfunction. Dysfunction of the endothelium can have significant consequences in neonates and children. It is essential to understand the mechanisms underlying endothelial dysfunction in neonates and paediatric population to develop effective therapy interventions and improve outcomes. The aim of the review is to summarize the recent studies on the endothelium-associated molecules as biomarkers of systemic inflammatory conditions in the neonatal and paediatric population.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 2","pages":"55-63"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atractylenolide III Promotes Astrocyte Aβ Clearance by Up-regulating AQP4 to Improve Alzheimer's Disease. 苍术内酯III通过上调AQP4促进星形细胞Aβ清除,改善阿尔茨海默病。
IF 0.6 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071030140
Jingwen Hao, Qi Wan, Chanjuan Chen
{"title":"Atractylenolide III Promotes Astrocyte Aβ Clearance by Up-regulating AQP4 to Improve Alzheimer's Disease.","authors":"Jingwen Hao, Qi Wan, Chanjuan Chen","doi":"10.14712/fb2025071030140","DOIUrl":"https://doi.org/10.14712/fb2025071030140","url":null,"abstract":"<p><p>Astrocytes actively phagocytose amyloid beta (Aβ), enhancing cerebral clearance and positioning themselves as viable therapeutic targets for Alz-heimer's disease (AD). Atractylenolide III (ATL-III), the primary bioactive compound in the traditional Chinese herb Baizhu, demonstrates established neuroprotective properties. However, the research on its effects on astrocytes has not yet been elaborated. To induce an astrocyte-based AD model, Aβ1-42 was utilized. Cell viability assays were conducted to screen for the optimal concentration of ATL-III treatment. Molecular docking was performed to investigate the binding between ATL-III and aquaporin 4 (AQP4). Additionally, an Aβ1-42-induced AD mouse model was adopted. In this study, ATL-III effectively reduced the accumulation level of Aβ1-42 in the cell supernatant, and at the same time, significantly enhanced the internalization of Aβ by astrocytes. Of interest, the study reveals that ATL-III not only has the property of binding to AQP4 but also up-regulates the expression level of this protein. Mechanistic probes suggest that the role of ATL-III in promoting Aβ clearance by astrocytes may be partially dependent on its regulation of AQP4 expression. Animal behavioural experiments confirmed that the compound ameliorated Aβ1-42-induced cognitive dysfunction, and pathological analyses revealed significantly elevated AQP4 expression in the hippocampus. The combined findings suggest that ATL-III may play a role in ameliorating the pathological process of AD by enhancing the efficiency of astrocyte-mediated Aβ clearance through the up-regulation of AQP4 expression.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 3","pages":"140-148"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145400251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of Zoledronic Acid on the Femoral Bone Morphology and Innervation in Rats with Glucocorticoid-Induced Osteoporosis. 唑来膦酸对糖皮质激素所致骨质疏松大鼠股骨形态及神经支配的影响。
IF 0.6 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025.0005
Nazar M Kostyshyn, Ewa Tomaszewska, Siemowit Muszyński, Marcin B Arciszewski, Maria Mielnik-Błaszczak, Damian Kuc, Piotr Dobrowolski
{"title":"Effect of Zoledronic Acid on the Femoral Bone Morphology and Innervation in Rats with Glucocorticoid-Induced Osteoporosis.","authors":"Nazar M Kostyshyn, Ewa Tomaszewska, Siemowit Muszyński, Marcin B Arciszewski, Maria Mielnik-Błaszczak, Damian Kuc, Piotr Dobrowolski","doi":"10.14712/fb2025.0005","DOIUrl":"10.14712/fb2025.0005","url":null,"abstract":"<p><p>Long-term glucocorticoid therapy, commonly used because of its potent anti-inflammatory effects, frequently leads to glucocorticoid-induced osteoporosis (GIOP), causing severe bone loss and increased fracture risk. Given the limited effectiveness of current therapies in addressing both bone structural deterioration and impaired bone innervation, we evaluated whether low-dose zoledronic acid (ZOL) could alleviate these detrimental effects on bone architecture and neural integrity in a rat model of GIOP. Thirty-six male Wistar rats were divided into three groups: control (saline), glucocorticoid-treated (methylprednisolone, 3 mg/kg every other day) and glucocorticoid-ZOL-treated (0.025 mg/kg monthly). After 8 and 16 weeks, comprehensive histological and immunohistochemical analyses were performed to assess bone morphology, the expression of osteocalcin (OC), osteoprotegerin (OPG) and receptor activator of nuclear factor kappa-B ligand (RANKL), as well as neural integrity using markers vasoactive intestinal polypeptide (VIP) and protein gene product 9.5 (PGP9.5). Glucocorticoid treatment significantly increased cytokine responses at trabecular bone surfaces, indicating accelerated remodelling and structural deterioration. It also adversely affected the neuronal morphology and distribution within the femoral bone. ZOL partially mitigated glucocorticoid-induced bone structural impairments, significantly reducing trabecular bone loss and remodelling disturbances. Importantly, ZOL did not exacerbate the glucocorticoid-induced neuronal alterations. We conclude that low-dose periodic administration of ZOL effectively reduces glucocorticoid-induced structural deterioration of the femoral bone without negatively influencing neuronal integrity. These findings support ZOL as a potential therapeutic strategy for simultaneously preserving bone health and neural function in glucocorticoid-induced osteoporosis.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 5-6","pages":"193-211"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring IDH1 and IDH2 Mutations in Paediatric Medulloblastoma. 探讨儿童髓母细胞瘤中IDH1和IDH2突变。
IF 1.1 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071020073
Motaz Fadul, Saleh Baeesa, Alaa Alkhotani, Amany A Fathaddin, Ahmed I Lary, Bassam Addass, Taghreed Alsinani, Ahmed Bamaga, Ahmad Albeshri, Mohammed M Karami, Mohammed A Abutalib, Maher Kurdi
{"title":"Exploring IDH1 and IDH2 Mutations in Paediatric Medulloblastoma.","authors":"Motaz Fadul, Saleh Baeesa, Alaa Alkhotani, Amany A Fathaddin, Ahmed I Lary, Bassam Addass, Taghreed Alsinani, Ahmed Bamaga, Ahmad Albeshri, Mohammed M Karami, Mohammed A Abutalib, Maher Kurdi","doi":"10.14712/fb2025071020073","DOIUrl":"https://doi.org/10.14712/fb2025071020073","url":null,"abstract":"<p><p>Medulloblastoma (MB) in children is associated with distinct molecular subgroups, reflecting substantial biological heterogeneity. The presence of isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations in paediatric MB has been rarely reported and not routinely investigated. Our study included 23 samples from paediatric patients diagnosed with MB. Hotspot alterations at codons IDH1 R132 and IDH2 R172 were examined using Sanger sequencing following polymerase chain reaction (PCR). The mean age of the patients was 10 years (SD: 4.25), comprising 17 males and 6 females. All cases exhibited classical histological features of MB. β-Catenin expression was observed in four cases (17.4 %), while 19 cases (82.6 %) showed no expression. No statistically significant differences in progression-free survival (PFS) were found between MBs with positive or negative β-catenin expression (P = 0.6). Radiotherapy alone was administered to four patients (17.4 %), while 19 patients (82.6 %) received combined radiotherapy and chemotherapy. The median PFS was 383 days (1 year and 18 days). IDH1 R132 or IDH2 R172 hotspot mutations were not detected in any of the samples. The absence of IDH1 or IDH2 mutations in paediatric MB may be attributed to differences in mutational profiles and cellular origins in childhood MB, despite its histomolecular similarities with adult MB.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 2","pages":"73-78"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Semi-automated RNA Isolation from Tempus Blood RNA Tubes Using the Magcore Plus II Instrument. 使用Magcore Plus II仪器从Tempus血RNA管中半自动分离RNA。
IF 1.1 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071020088
Marta Černá, Barbora Šťastná, Pavel Pešek, Taťána Ptáčková, Markéta Janatová, Jana Soukupová, Klára Horáčková, Petra Kleiblová
{"title":"Semi-automated RNA Isolation from Tempus Blood RNA Tubes Using the Magcore Plus II Instrument.","authors":"Marta Černá, Barbora Šťastná, Pavel Pešek, Taťána Ptáčková, Markéta Janatová, Jana Soukupová, Klára Horáčková, Petra Kleiblová","doi":"10.14712/fb2025071020088","DOIUrl":"https://doi.org/10.14712/fb2025071020088","url":null,"abstract":"<p><p>High-throughput, precise and cost-effective isolation of high-quality RNA is essential for the growing number of RNA-based next-generation sequencing (NGS) analyses. Manual RNA isolation provides sufficient quality but requires significant hands-on time and carries an increased risk of contamination and sample misidentification. Here we describe a semi-automated protocol for the isolation of high-quality total RNA from 3 ml of peripheral blood collected in Tempus Blood RNA Tubes. The isolation can be performed either from the total volume of 9 ml of Tempus blood lysate or from smaller volumes (6 and 3 ml, respectively) using the MagCore triXact RNA Kit on the MagCore Plus II automated nucleic acid extractor, which allows RNA isolation in single tubes. The original isolation protocol (#631) for whole blood RNA isolation was customized by the manufacturer (#631T) by omitting the cell lysis step. After optimizing the process, we compared the yield and quality of 760 RNA samples isolated manually or by semi-automated methods. We conclude that RNA isolation using the semi-automated MagCore protocol yields 5-10 μg of total RNA from 6 ml of lysate (2 ml of peripheral blood), which is almost comparable in quantity and quality to manual isolation. In addition, we show that the remaining 3 ml of lysate is sufficient for backup re-isolation. Our semi-automated RNA protocol reduces hands-on time without increasing costs and yields bulky total RNA of a quali-ty suitable for subsequent RNA NGS applications.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 2","pages":"88-94"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the Clinical Significance and Mechanistic Role of the LINC00487/hsa-miR-663b Axis in Cell Line Models of Acute Lung Injury. 探讨LINC00487/hsa-miR-663b轴在急性肺损伤细胞系模型中的临床意义及机制作用。
IF 1.1 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071020079
Xixiang Yan, Ziqi Xie, Xiaoye Zheng, Qing Xie, Junle Yang, Xiaojuan Wu
{"title":"Exploring the Clinical Significance and Mechanistic Role of the LINC00487/hsa-miR-663b Axis in Cell Line Models of Acute Lung Injury.","authors":"Xixiang Yan, Ziqi Xie, Xiaoye Zheng, Qing Xie, Junle Yang, Xiaojuan Wu","doi":"10.14712/fb2025071020079","DOIUrl":"https://doi.org/10.14712/fb2025071020079","url":null,"abstract":"<p><p>Acute lung injury (ALI) is a serious lung disease that tends to progress to acute respiratory distress syndrome (ARDS). This study was aimed to seek new biomarkers of ALI to provide a basis for monitoring the progress of ALI in time. A human bronchial epithelial cell line (HBEC3-KT) was treated with 1 μg/ml lipopolysaccharide (LPS) to induce the ALI response. The expression of LINC00487 and hsa-miR-663b in LPS-treated HBEC3-KT cells was detected by RT-qPCR. The regulation of hsa-miR-663b by LINC00487 was investigated using a dual luciferase assay and an over-expression experiment. Cell proliferation and apoptosis were detected by the CCK-8 assay and annexin V-FITC kit. Serum levels of LINC00487 and hsa-miR-663b were detected by collecting blood samples from ALI patients (with or without ARDS), and the ROC curve was constructed to assess their clinical value in ALI. LPS inhibited proliferation of HBEC3-KT cells and promoted their apoptosis and inflammatory response, which were further enhanced by LINC00487 over-expression and reversed by an hsa-miR-663b mimic. The hsa-miR-663b mimic weakened the luciferase activity of HBEC3-KT cells transfected with the luciferase vector of wild-type LINC00487. The cellular level of hsa-miR-663b was down-regulated by LINC00487 over-expression and increased by LINC00487 knockdown. The ROC curve showed that LINC00487 combined with hsa-miR-663b effectively diagnosed ALI (AUC = 0.840) and was a classifier for ALI patients with or without ARDS (AUC = 0.822). Serum LINC00487 and hsa-miR-663b levels are valuable biomarkers of ALI and can monitor the ALI progress. LINC00487 may promote ALI progression by negatively regulating hsa-miR-663b.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 2","pages":"79-87"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144590816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Selected Genetic Characteristics of the Vietnamese Minority Living in the Czech Republic. 生活在捷克共和国的越南少数民族的遗传特征。
IF 1.1 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025071010001
Khanh Ha Pham, Jaroslav A Hubáček
{"title":"Selected Genetic Characteristics of the Vietnamese Minority Living in the Czech Republic.","authors":"Khanh Ha Pham, Jaroslav A Hubáček","doi":"10.14712/fb2025071010001","DOIUrl":"https://doi.org/10.14712/fb2025071010001","url":null,"abstract":"<p><p>The aim of this study was to analyse the allelic distribution of selected genes in the Czech and Vietnamese populations. We analysed samples from 94 Vietnamese volunteers and 2,859 Czech population-based subjects (2,559 from the Czechs post-MONICA and 300 volunteers from the South region of the Czech Republic). There were significant differences between the two populations for most, but not all, of the SNPs analysed. In particular, the prevalence of risk alleles in the analysed polymorphisms tended to be lower in the Vietnamese community compared to the Czech population, especially within the FTO (rs17817449; associated with obesity risk, P &lt; 0.0001), TCF7L2 (rs7903146; linked to type 2 dia-betes, P &lt; 0.0001) and ADH1B (rs1229984; related to alcohol consumption, P &lt; 0.0001) genes. The genotype within the MCM6/LCT cluster (rs4988235) associated with lactase persistence was not present in the Vietnamese population. Slight genotype differences were detected for one HFE polymorphism (rs1799945 with P = 0.005; but not for rs1800562). Only the genotype frequencies within the MC4R and APOE genes were almost identical in both populations. We conclude that the Vietnamese population may have a lower genetic predisposition to the non-communicable diseases such as obesity or diabetes mellitus.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 1","pages":"1-7"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development and Technical Validation of the Clinical Lymphoma Exploration and Research Sequencing (CLEARS) Panel and Its Optimization for ctDNA Analysis. 临床淋巴瘤探索和研究测序(clear)面板的开发和技术验证及其ctDNA分析的优化。
IF 0.6 4区 医学
Folia Biologica Pub Date : 2025-01-01 DOI: 10.14712/fb2025.0009
Iva Hamová, Adriana Velasová, Petra Zemánková, Petr Nehasil, Kristýna Kupcová, Jana Soukupová, Markéta Janatová, Milena Hovhannisyan, Jana Seňavová, Anton Tkachenko, Marek Trněný, Ondřej Havránek
{"title":"Development and Technical Validation of the Clinical Lymphoma Exploration and Research Sequencing (CLEARS) Panel and Its Optimization for ctDNA Analysis.","authors":"Iva Hamová, Adriana Velasová, Petra Zemánková, Petr Nehasil, Kristýna Kupcová, Jana Soukupová, Markéta Janatová, Milena Hovhannisyan, Jana Seňavová, Anton Tkachenko, Marek Trněný, Ondřej Havránek","doi":"10.14712/fb2025.0009","DOIUrl":"https://doi.org/10.14712/fb2025.0009","url":null,"abstract":"<p><p>Circulating tumour DNA (ctDNA) is a potential biomarker for the assessment of prognosis and treatment response in lymphoma patients. However, there is still a lack of standardization of ctDNA analysis. Here, we present the development of our Clinical Lymphoma Exploration And Research Sequencing (CLEARS) panel for cancer personalized profiling by deep sequencing (CAPP-Seq), together with optimization of sequencing library preparation for ctDNA analysis. The CLEARS panel targets coding sequences of 521 genes most frequently altered in lymphomas, with its main purpose to analyse ctDNA. We tested its performance, determined the optimal workflow for cell‑free DNA (cfDNA) pre-capture sample library preparation, and confirmed our ability to achieve sufficient variant allele frequency detection limit for baseline ctDNA evaluation. Reported technical considerations and optimization results could further help standardize preparation of sequencing libraries from cfDNA samples.</p>","PeriodicalId":12281,"journal":{"name":"Folia Biologica","volume":"71 5-6","pages":"244-255"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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