目的:通过网络药理学与分子对接技术探究人参治疗阿尔茨海默病(Alzheimer’s disease, AD)的作用机制。方法:通过TCMSP数据库筛选人参的活性成分,用PubChem数据库对人参活性成分进行筛选,得到人参活性成分的靶点。通过GeNET数据库和GeneCards数据库提取阿尔茨海默病发病机制相关的靶点,将两个数据库得到的靶点取交集绘制Venn图,得到最终的疾病靶点,并与人参主要成分靶点进行映射,得到药物–疾病互作靶点。通过String数据库绘制蛋白质–蛋白质相互作用(protein-protein interaction, PPI)网络,使用Cytoscape软件构建药物–疾病互作靶点网络,采用DAVID v6.8在线分析平台对关键靶点进行基因本体(gene ontology, GO)功能及京都基因与基因组百科全书(Kyoto encyclopedia of genes and genomes, KEGG)通路富集分析,利用Cytoscape软件将富集分析结果可视化并将分析所得关键化合物及靶点进行分子对接。利用孟德尔随机化分析调查互作靶点与阿尔茨海默病之间潜在的因果关系;结果:筛选出人参的活性成分有8个,活性成分对应靶点361个,活性成分靶点与疾病靶点取交集得到最终靶点121个。GO功能富集分析结果显示,人参可通过多靶点–多通路作用于阿尔茨海默病。KEGG通路富集分析结果显示,人参治疗阿尔茨海默病主要包括神经活性配体–受体的相互作用、Ras、MAPK信号通路以及多种细胞凋亡通路。结论:通过网络药理学及分子对接技术揭示了人参治疗阿尔茨海默病的关键成分及作用靶点,这些发现为深入的研究人参的药理作用及开发新型阿尔茨海默病治疗药物奠定了理论基础。Objective: To explore the mechanism of ginseng in the treatment of Alzheimer’s disease (AD) through network pharmacology and molecular docking technology. Methods: The active components of ginseng were screened by the TCMSP database and screened by the PubChem database to get the target of ginseng active components. Targets related to the pathogenesis of Alzheimer’s disease were extracted from the GeNET database and GeneCards database, and the targets obtained from the two databases were intersected to draw a Venn diagram to obtain the final disease targets, and the targets of ginseng main components were mapped to obtain drug-disease interaction targets. The protein-protein interaction (PPI) network was mapped using the String database, and the drug-disease interaction target network was constructed using Cytoscape software. The gene ontology (GO) function and the Kyoto encyclopedia of genes and genomes (KEGG) pathway concentration analysis were conducted using the DAVID v6.8 online analysis platform. The results of the enrichment analysis were visualized by Cytoscape software and the key compounds and targets obtained from the analysis were interlinked. Mendelian randomization analysis was used to investigate the potential causal relationsh
目的:分析一例软骨–毛发发育不良(CHH)患儿的临床特征及基因变异特点。方法:回顾分析1例CHH患儿的临床资料及相关实验室检查结果,对先证者父母及其进行家系全外显子测序。结果:矮小患儿表现为生长发育迟缓,发育落后、特殊面容(头发颜色偏黄,内眦赘皮,腭弓稍高),给予生长激素治疗,生长速度改善不明显,基因测序显示患者是RMRP基因c.-90-425G>A,杂合突变,目前国内外尚未见报道。结合患儿临床表现及检查结果,诊断为CHH。结论:临床上特殊类型矮小患儿应尽早行全外显子测序和Sanger测序,以明确诊断。关键软骨–毛发发育不良,RMRP基因,身材矮小 [-rId9-]Yuxin Liu1, Jingtong Zhao2, Xiaozheng Wan3, Dexian Kong4, Kexin Gan5, Xiuqin Lyu5, Dongmei Zhang5, Boqing Ma5, Jing Liu5*, Huijuan Ma61Clinical Medical College, North China University of Science and Technology, Tangshan Hebei2Clinical College of Hebei Medical University, Shijiazhuang Hebei3Graduate School of Hebei North University, Zhangjiakou Hebei4Department of Endocrinology, Hebei Petrol China Central Hospital, Langfang Hebei5Department of Endocrinology, Hebei General Hospital, Shijiazhuang Hebei6Department of Endocrinology, The First Hospital of Hebei Medical University, Shijiazhuang HebeiReceived: Jan. 24th, 2025;accepted: Feb. 17th, 2025;published: Feb. 27th, 2025[-rId9-]AbstractObjective: To analyze the clinical features and genetic variation of a child with Cartilage-hair hypoplasia (CHH). Methods: The clinical data and laboratory test results of one child with CHH were retrospectively analyzed, and the parents of the proband and their families were sequenced by whole exon. Results: The patient presented with growth retardation, developmental lag, and special features (yellow hair color, epicanthus, and slightly high palatal arch). The patient was diagnosed as short stature in another hospital and was treated with growth hormone, with no obvious improvement in growth rate. Gene sequencing showed that the patient had RMRP gene c.-90-425G>A and heterozygous mutation, which has not been reported at home and abroad. Combined with the clinical manifestations and examination results, the patient was diagnosed as CHH. Conclusion: In patients with high suspection of a special type of short stature, early genetic tests should be carried out for a clear ***-Hair H
【背景】施肥是一种常用的农业生产手段,但目前关于施肥对马铃薯根系细菌群落多样性影响和对细菌功能影响的研究依然较少。【目的】以张家口地区马铃薯为研究对象,研究未施肥与常规施肥处理对马铃薯根系细菌组成结构和功能的影响。【方法】本研究利用16S r RNA基因高通量测序技术,对张家口马铃薯施肥与未施肥处理下根系微生物进行分析。【结果】施肥处理影响了马铃薯苗期与块茎形成期的根系细菌相对丰度:在苗期,相较于未施肥组,施肥组显著降低根际浮霉菌门(Planctomycetota)、根表蓝细菌门(Cyanobacteria)和根内厚壁菌门(Firmicutes)的相对丰度,显著提高根表蛭弧菌门(Bdellovibrionota)、装甲菌门(Armatimonadota)、拟杆菌门(Bacteroidota)、髌骨菌门(Patescibacteria)与根内绿弯菌门(Chloroflexi)、Planctomycetota的相对丰度;在块茎形成期,相较于未施肥组,施肥组显著提高根际的酸杆菌门(Acidobacteriota)、Firmicutes、放线菌门(Actinobacteriota)、Bacteroidota、Patescibacteria、根表的Armatimonadota、Bacteroidota、Bdellovibrionota和根内的Armatimonadota、念珠菌门(Hydrogenedentes)的相对丰度,显著降低根际Cyanobacteria、根表芽单胞菌门(Gemmatimonadota)、Cyanobacteria、黏球菌门(Myxococcota)和根内的硝化螺旋菌门(Nitrospirota)与RCP2-54的相对丰度。同时,施肥处理影响了马铃薯苗期与块茎形成期的基因功能相对丰度:在苗期,相较于未施肥组,施肥组显著提高根表其他次级代谢物的生物合成、糖类生物合成和代谢、复制与修复,以及根内复制与修复的基因功能相对丰度;在块茎形成期,相较于未施肥组,施肥组显著提高根际萜类和聚酮类化合物的代谢和脂质代谢、根内复制与修复,以及根表萜类和聚酮类化合物的代谢和脂质代谢的基因功能相对丰度,显著降低根际能量代谢、辅酶和维生素的代谢及其他氨基酸的代谢,以及根表转录、折叠、分类与降解和能量代谢的基因功能相对丰度。【结论】常规施肥能够改善其根系微生物结构和基因功能相对丰度,即相较于对照组,施肥组中细菌群落丰富度和多样性显著提高,并且有关代谢、能量转化与利用的基因功能相对丰度显著提高,从而有效地提高马铃薯产量。
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