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Peripheral mitochondrial DNA as a neuroinflammatory biomarker for major depressive disorder
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作者 Jinmei Ye Cong Duan +5 位作者 Jiaxin Han Jinrong Chen Ning Sun Yuan Li Tifei Yuan Daihui Peng 《Neural Regeneration Research》 SCIE CAS 2025年第6期1541-1554,共14页
In the pathogenesis of major depressive disorder, chronic stress-related neuroinflammation hinders favorable prognosis and antidepressant response. Mitochondrial DNA may be an inflammatory trigger, after its release f... In the pathogenesis of major depressive disorder, chronic stress-related neuroinflammation hinders favorable prognosis and antidepressant response. Mitochondrial DNA may be an inflammatory trigger, after its release from stress-induced dysfunctional central nervous system mitochondria into peripheral circulation. This evidence supports the potential use of peripheral mitochondrial DNA as a neuroinflammatory biomarker for the diagnosis and treatment of major depressive disorder. Herein, we critically review the neuroinflammation theory in major depressive disorder, providing compelling evidence that mitochondrial DNA release acts as a critical biological substrate, and that it constitutes the neuroinflammatory disease pathway. After its release, mitochondrial DNA can be carried in the exosomes and transported to extracellular spaces in the central nervous system and peripheral circulation. Detectable exosomes render encaged mitochondrial DNA relatively stable. This mitochondrial DNA in peripheral circulation can thus be directly detected in clinical practice. These characteristics illustrate the potential for mitochondrial DNA to serve as an innovative clinical biomarker and molecular treatment target for major depressive disorder. This review also highlights the future potential value of clinical applications combining mitochondrial DNA with a panel of other biomarkers, to improve diagnostic precision in major depressive disorder. 展开更多
关键词 BIOMARKER cytokine EXOSOMES INFLAMMASOME major depressive disorder MICROGLIA mitochondrial dna mitochondrial dysfunction NEUROINFLAMMATION Toll-like receptor
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安徽新安江水牛mtDNA D-Loop区遗传多样性与系统进化研究
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作者 赵拴平 金海 +5 位作者 刘峻 李永胜 金磊 李倩 徐磊 贾玉堂 《中国草食动物科学》 CAS 北大核心 2024年第1期1-7,共7页
试验旨在分析安徽省黄山市新安江流域上游地区新安江水牛群体的分子遗传特性,探究其母系起源与遗传多样性。利用PCR扩增和测序技术测定28头新安江水牛的mtDNA D-Loop序列,下载GenBank数据库中24个中国水牛群体的693条D-Loop序列,利用生... 试验旨在分析安徽省黄山市新安江流域上游地区新安江水牛群体的分子遗传特性,探究其母系起源与遗传多样性。利用PCR扩增和测序技术测定28头新安江水牛的mtDNA D-Loop序列,下载GenBank数据库中24个中国水牛群体的693条D-Loop序列,利用生物信息学分析其遗传多样性,构建Neighbor-joining系统发生树和Media-joining网络,探索不同水牛群体的遗传距离。结果显示,28头新安江水牛的mtDNA D-Loop序列共有117个变异位点,构成25种单倍型,其核苷酸多样性为0.02602±0.00303,单倍型多样性为0.989±0.014。新安江水牛群体的变异性水平与中国其他水牛群体接近。N-J系统进化树显示,新安江水牛25个单倍型分为A、B两个支系,具有A支系和B支系2个母系来源,其中A支系占据主导地位。Media-joining进化网络显示,中国水牛主要为沼泽型水牛,分为沼泽型水牛A支系和B支系,B支系又分为b1亚支系和b2亚支系。综上,新安江水牛群体变异水平与中国其他地方水牛群体接近,群体遗传多样性丰富;且新安江水牛属于沼泽型水牛,具有2个线粒体母系来源,与我国其他地方水牛群体具有一定的遗传距离。 展开更多
关键词 水牛 线粒体dna 遗传多样性 单倍型
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基于mtDNA Cytb基因对甘肃4个马群体遗传多样性和系统发育的研究
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作者 高颖 成述儒 +6 位作者 史金平 罗志皓 张全伟 王建福 刘哲 张勇 刘婷 《黑龙江畜牧兽医》 CAS 北大核心 2024年第12期41-49,123,124,共11页
为了研究甘肃境内部分马群体的遗传多样性、遗传结构和母系起源,试验采用DNA测序技术对甘肃4个马群体(岔口驿马49匹、河曲马20匹、山丹马30匹和肃南马34匹)共133个个体血样的线粒体DNA(mitochondrial DNA,mtDNA)中的细胞色素b(cytochrom... 为了研究甘肃境内部分马群体的遗传多样性、遗传结构和母系起源,试验采用DNA测序技术对甘肃4个马群体(岔口驿马49匹、河曲马20匹、山丹马30匹和肃南马34匹)共133个个体血样的线粒体DNA(mitochondrial DNA,mtDNA)中的细胞色素b(cytochrome b,Cytb)基因进行PCR扩增,并对4个马群体的Cytb基因序列特征、遗传多样性、遗传距离、遗传分化与变异进行了分析,结合其他马群体的Cytb基因序列构建了系统发育树单位型网络关系图。结果表明:4个马群体Cytb基因序列全长1140 bp,A+T含量(54.6%)大于G+C含量(45.4%),共检测到46个多态位点,33种单倍型;总单倍型多样度为0.9332±0.0100,总核苷酸多样度为0.00385±0.00017,总平均核苷酸差异为4.3714,平均Tajima's D值和Fu's Fs值分别为-1.0352和-13.057;4个马群体间的遗传距离、遗传变异系数和基因流的范围分别为0.0035~0.0042,0.01923~0.09132,4.975~25.504;4个马群体内的遗传变异(94.54%)远大于其群体间的遗传变异(5.46%);4个马群体的33种单倍型分散于6个支系(A~F)中。说明甘肃4个马群体间亲缘关系较近,都具有较高的遗传多样性且均为多母系起源。 展开更多
关键词 线粒体dna(mtdna) 细胞色素b(Cytb)基因 遗传多样性 系统发育
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基于mtDNA Cytb基因序列的新疆两个地方黄牛品种遗传多样性和系统发育研究
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作者 王盼盼 巴合提·博代 +2 位作者 博拉提汗·马哈托夫 曾伟欣 吾热力哈孜·哈孜汗 《黑龙江畜牧兽医》 CAS 北大核心 2024年第12期35-40,122,共7页
为了探讨新疆地方黄牛品种的遗传多样性和母系起源,试验以新疆2个地方黄牛品种(哈萨克牛72头和阿勒泰白头牛34头)为研究对象,利用PCR技术扩增其线粒体DNA(mtDNA)细胞色素b(Cytb)基因序列并进行多态位点、单倍型、核苷酸多样度(Pi)、单... 为了探讨新疆地方黄牛品种的遗传多样性和母系起源,试验以新疆2个地方黄牛品种(哈萨克牛72头和阿勒泰白头牛34头)为研究对象,利用PCR技术扩增其线粒体DNA(mtDNA)细胞色素b(Cytb)基因序列并进行多态位点、单倍型、核苷酸多样度(Pi)、单倍型多样度(Hd)及平均核苷酸差异(K)和中性检验分析,并与我国部分黄牛品种的mtDNA Cytb基因序列进行综合分析以探讨二者的母系起源。结果表明:哈萨克牛和阿勒泰白头牛Cytb基因序列全长为463 bp, A、T、C三种碱基含量均为32.3%、27.0%、 26.2%,G碱基含量分别为14.5%和14.6%;A+T含量均为59.3%,G+C含量分别为40.7%和40.8%,A+T含量高于G+C含量;共检测到19个多态位点,包含12个转换、4个颠换和3个颠换/转换,其中单一多态位点10个,简约信息位点9个,导致6个氨基酸发生错义突变;19个多态位点共定义了24种单倍型(即Hap-1~24),总单倍型多样度为0.701±0.046,总核苷酸多样度为0.003 45±0.000 46,平均核苷酸差异为1.598;72头哈萨克牛Cytb基因序列的单倍型多样度为0.674±0.059,核苷酸多样度为0.003 28±0.000 53,且中性检验结果不显著(0.050.10);哈萨克牛和阿勒泰白头牛的优势单倍型均为Hap-1、Hap-6、Hap-3,起源于德国普通牛和瘤牛两大混合母系,以德国普通牛血统为主。说明哈萨克牛和阿勒泰白头牛的遗传多样性较匮乏,且有两个共同的母系祖先。 展开更多
关键词 新疆黄牛 哈萨克牛 阿勒泰白头牛 线粒体dna(mtdna) 细胞色素b(Cytb)基因 遗传多样性 系统发育
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Mutual promotion of mitochondrial fi ssion and oxidative stress contributes to mitochondrial-DNAmediated infl ammation and epithelial-mesenchymal transition in paraquat-induced pulmonary fibrosis 被引量:1
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作者 Jie Zhang Wen-jing Li +8 位作者 Shi-qiang Chen Ze Chen Chen Zhang Ran Ying Hong-bing Liu Long-wang Chen Ya-hui Tang Zhong-qiu Lu Guang-ju Zhao 《World Journal of Emergency Medicine》 SCIE CAS CSCD 2023年第3期209-216,共8页
BACKGROUND:Pulmonary fibrosis(PF)is one of the main causes of death in patients with paraquat(PQ)poisoning.This study aimed to evaluate the relationship between mitochondrial fi ssion and oxidative stress in PQ-induce... BACKGROUND:Pulmonary fibrosis(PF)is one of the main causes of death in patients with paraquat(PQ)poisoning.This study aimed to evaluate the relationship between mitochondrial fi ssion and oxidative stress in PQ-induced epithelial-mesenchymal transition(EMT)and PF.METHODS:C57BL/6 mice and MLE-12 cells were exposed to PQ to construct a PF model in vivo and in vitro.Histological changes in the lungs were examined by hematoxylin and eosin(H&E)staining.Mitochondrial morphology was detected by MitoTracker®Deep Red FM or transmission electron microscopy(TEM).Western blotting and immunofluorescence were used to determine the expression of protein.The migration ability of the cells was detected by the cell scratch test.Mitochondrial DNA(mtDNA)levels were assessed by real-time polymerase chain reaction(PCR).Enzyme-linked immunosorbent assay(ELISA)was applied to detect cytokine levels.Superoxide dismutase(SOD)activity and the levels of glutathione(GSH)and malondialdehyde(MDA)were detected by chemichromatometry.RESULTS:PQ exposure caused EMT and PF in vivo and in vitro.PQ destroyed mitochondrial structure and enhanced the expression of dynamin-related protein 1(Drp1),which were accompanied by oxidative stress.Inhibiting mitochondrial fission using mitochondrial division inhibitor-1(Mdivi-1),a selective inhibitor of Drp1,attenuated PQ-induced EMT and oxidative damage.Treatment with N-acetyl-L-cysteine(NAC),an antioxidant,reduced Drp1 expression,attenuated mitochondrial structure damage and inhibited PQ-induced EMT and PF.Both Mdivi-1 and NAC treatment markedly suppressed mtDNA release,the expression of Toll-like receptor 9(TLR9)and phosphorylation(P)-NF-κB p65 as well as cytokines(interleukin 6[IL-6],interleukin-1β[IL-1β],and tumor necrosis factor-α[TNF-α])production.CONCLUSION:Mutual promotion of mitochondrial fission and oxidative stress contributes to EMT in PQ-induced PF,which is associated with the mtDNA/TLR9/NF-κB pathway. 展开更多
关键词 PARAQUAT mitochondrial fi ssion Oxidative stress Epithelial-mesenchymal transition mitochondrial dna
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Major depressive disorder is associated with mitochondrial ND6 T14502C mutation in two Han Chinese families
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作者 Pan Jing Hai-Hang Yu +7 位作者 Ting-Ting Wu Bi-Hua Yu Ming Liang Ting-Ting Xia Xue-Wen Xu Ting Xu Ling-Jiang Liu Xiao-Bin Zhang 《World Journal of Psychiatry》 SCIE 2024年第11期1746-1754,共9页
BACKGROUND Globally,the World Health Organization ranks major depressive disorder(MDD)as the leading cause of disability.However,MDD molecular etiology is still poorly understood.AIM To explore the possible associatio... BACKGROUND Globally,the World Health Organization ranks major depressive disorder(MDD)as the leading cause of disability.However,MDD molecular etiology is still poorly understood.AIM To explore the possible association between mitochondrial ND6 T14502C mutation and MDD.METHODS Clinical data were collected from two pedigrees,and detailed mitochondrial genomes were obtained for the two proband members.The assessment of the resulting variants included an evaluation of their evolutionary conservation,allelic frequencies,as well as their structural and functional consequences.Detailed mitochondrial whole genome analysis,phylogenetic,and haplotype analysis were performed on the probands.RESULTS Herein,we reported the clinical,genetic,and molecular profiling of two Chinese families afflicted with MDD.These Chinese families exhibited not only a range of onset and severity ages in their depression but also extremely low penetrances to MDD.Sequence analyses of mitochondrial genomes from these pedigrees have resulted in the identification of a homoplasmic T14502C(I58V)mutation.The polymorphism is located at a highly conserved isoleucine at position 58 of ND6 and distinct mitochondrial DNA(mtDNA)polymorphisms originating from haplogroups M10 and H2.CONCLUSION Identifying the T14502C mutation in two individuals with no genetic relation who exhibit symptoms of depression provides compelling evidence that this mutation may be implicated in MDD development.Nonetheless,the two Chinese pedigrees that carried the T14502C mutation did not exhibit any functionally significant mutations in their mtDNA.Therefore,the phenotypic expression of the T14502C mutation related to MDD may be influenced by the nuclear modifier gene(s)or environmental factors. 展开更多
关键词 Major depressive disorder mitochondrial dna ND6 T14502C MUTATION HAPLOGROUP CHINESE
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DNATyper mtDNA-SNP60^(TM)试剂盒在案件中的应用研究
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作者 杨乐 陈滢 +4 位作者 吴俞衡 石妍 齐朝阳 孔祥仕 马温华 《刑事技术》 2024年第3期255-261,共7页
本文探讨DNATyper mtDNA-SNP60^(TM)试剂盒在案件中应用的可行性。应用DNATyper mtDNASNP60^(TM)试剂盒对100个汉族无关个体和20组全同胞进行mtDNA SNP检验;取25 pg/μL马、牛、羊、猪、鸡、鸭、猫、狗、兔、鼠和大肠杆菌的DNA样品进行... 本文探讨DNATyper mtDNA-SNP60^(TM)试剂盒在案件中应用的可行性。应用DNATyper mtDNASNP60^(TM)试剂盒对100个汉族无关个体和20组全同胞进行mtDNA SNP检验;取25 pg/μL马、牛、羊、猪、鸡、鸭、猫、狗、兔、鼠和大肠杆菌的DNA样品进行种属特异性测试;取5、10、20、40μmol/L血红素进行抗抑制性测试;取两个批次的DNATyper mtDNA-SNP60^(TM)试剂盒经反复冻融10次后进行稳定性测试;分别应用VeriFiler^(TM)Plus PCR扩增试剂盒和DNATyper mtDNA-SNP60^(TM)试剂盒对100份陈旧、腐败、降解检材进行检验。结果表明,100个汉族无关个体均获得清晰的mtDNA SNP分型结果,其检验结果与通过mtDNA测序获得的结果完全一致;100个汉族无关个体含有100种不同的单倍型;20组全同胞中每组个体之间mtDNA SNP分型结果相同;DNATyper mtDNA-SNP60^(TM)试剂盒对马、牛、羊、猪、鸡、鸭、猫、狗、兔、鼠和大肠杆菌的DNA样品进行检测,均未出现特异性分型;当血红素浓度≤40μmol/L时,所有mtDNA SNP位点均获得正确分型;两个批次的DNATyper mtDNA-SNP60^(TM)试剂盒经反复冻融10次后,所有mtDNA SNP位点均可正确分型;对于100份陈旧、腐败、降解检材,STR检出率为55%,mtDNA SNP的检出率为86%,mtDNA SNP的检出率显著高于STR。当模板DNA浓度大于5 pg/μL时,DNATyper mtDNA-SNP60^(TM)试剂盒能得到完整的分型谱图。综上,DNATyper mtDNA-SNP60^(TM)试剂盒可应用于陈旧、腐败、降解检材的检验,具有很好的实战应用价值。 展开更多
关键词 法医遗传学 dnaTyper mtdna-SNP60^(TM)试剂盒 线粒体dna 单核苷酸多态性 VeriFiler^(TM)Plus PCR扩增试剂盒 短串联重复序列
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由mtDNA清除THP-1细胞构建的人单核/巨噬细胞系Rho0细胞周期、凋亡、吞噬功能、炎症因子表达变化
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作者 王召宝 李媛 +1 位作者 宋绚丽 赵丽芳 《山东医药》 CAS 2024年第24期29-32,共4页
目的 观察由线粒体DNA(mtDNA)清除人单核细胞白血病细胞(THP-1细胞)构建的人单核/巨噬细胞系Rho0细胞周期、凋亡、吞噬功能、炎症因子表达变化。方法 取THP-1细胞,使用溴化乙锭(EB)清除细胞中mtDNA,构建新的人单核/巨噬细胞Rho0。取Rho... 目的 观察由线粒体DNA(mtDNA)清除人单核细胞白血病细胞(THP-1细胞)构建的人单核/巨噬细胞系Rho0细胞周期、凋亡、吞噬功能、炎症因子表达变化。方法 取THP-1细胞,使用溴化乙锭(EB)清除细胞中mtDNA,构建新的人单核/巨噬细胞Rho0。取Rho0细胞,分别给予1 mg/mL LPS或溶媒刺激24 h(计为Rho0-LPS组、Rho0-溶媒组);另取未经EB处理的THP-1细胞,分别给予1 mg/mL LPS或溶媒刺激24 h(计为Control-LPS组、Control-溶媒组);采用流式细胞术PI染色检测各组细胞周期,流式细胞术Annexin V-FITC/PI法测算各组凋亡细胞数,Red-Zymosan染料吞噬实验评估各组细胞吞噬功能(平均荧光强度)。取Rho0细胞(Rho0组)和取未经EB处理的THP-1细胞(Control组),采用RT-qPCR法检测炎症因子(IL-1α、IL-1β、TNF-α、IL-6、IL-8、IL-10、IL-12 mRNA)。结果 与Control-溶媒组比较,Rho0-溶媒组G0~G1期、S期、G2/M期比例降低及细胞凋亡数增加和平均荧光强度增强,Control-LPS组细胞凋亡数增加和平均荧光强度增强(P均<0.05);与Rho0-溶媒组比较,Rho0-LPS组G0~G1期比例降低及细胞凋亡数增加(P均<0.05)。与Control组比较,Rho0组IL-1β、TNF-α、IL-8、IL-10 mRNA表达升高(P均<0.05)。结论 清除mtDNA可导致Rho0细胞周期停滞,促进细胞凋亡,增强细胞吞噬功能及促炎功能。 展开更多
关键词 线粒体dna 人单核/巨噬细胞 细胞周期 细胞凋亡 细胞吞噬功能 细胞促炎因子 细胞抑炎因子
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Molecular phylogenetics and population demographic history of Amphioctopus fangsiao,inferred from mitochondrial and microsatellite DNA markers
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作者 Jian Zheng Yan Tang +2 位作者 Ran Xu Xiaoying Zhang Xiaodong Zheng 《Acta Oceanologica Sinica》 SCIE CAS CSCD 2023年第6期39-48,共10页
Amphioctopus fangsiao(Cephalopoda:Octopodidae)is an important commercial species in the coastal waters of China.In recent years,however,the resource of A.fangsiao have declined because of habitat destruction and overf... Amphioctopus fangsiao(Cephalopoda:Octopodidae)is an important commercial species in the coastal waters of China.In recent years,however,the resource of A.fangsiao have declined because of habitat destruction and overfishing.To analyze the genetic variations of A.fangsiao caused by the fluctuation of resources,the population genetic structure of nine sampling locations collected from the Bohai Sea to the South China Sea were investigated,using mtDNA COI fragments and microsatellite DNA.The results of F-statistics,AMOVA,STRUCTURE and PCA analyses showed three phylogeographic clades(Clades A,B and C),revealing limited genetic exchange between north and south populations.These clades diverged in 2.23(Clades A and B)and 3.67(Clades A,B and C)million years ago,during the dramatic environmental fluctuations,such as sea level and temperature changes,have exerted great influence on the survival distribution pattern of global organisms.Our results for low genetic connectivity among A.fangsiao populations provide insights into the development of management strategies,that is,to manage this species as separate management unit. 展开更多
关键词 genetic diversity population genetic structure Amphioctopus fangsiao mitochondrial dna microsatellite dna
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Late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with mitochondrial DNA 3243A>G mutation masquerading as autoimmune encephalitis:A case report
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作者 Jian-Wei Wang Xiao-Bo Yuan Hong-Fang Chen 《World Journal of Clinical Cases》 SCIE 2023年第14期3275-3281,共7页
BACKGROUND Here,we present a unique case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS)syndrome,which initially appeared to be autoimmune encephalitis and was ultimately confir... BACKGROUND Here,we present a unique case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS)syndrome,which initially appeared to be autoimmune encephalitis and was ultimately confirmed as MELAS with the mitochondrial DNA 3243A>G mutation.CASE SUMMARY A 58-year-old female presented with acute-onset speech impediment and auditory hallucinations,symmetrical bitemporal lobe abnormalities,clinical and laboratory findings,and a lack of relevant prodromal history,which suggested diagnosis of autoimmune encephalitis.Further work-up,in conjunction with the patient’s medical history,family history,and lactate peak on brain lesions on magnetic resonance imaging,suggested a mitochondrial disorder.Mitochondrial genome analysis revealed the m.3243A>G variant in the MT-TL1 gene,which led to a diagnosis of MELAS syndrome.CONCLUSION This case underscores the importance of considering MELAS as a potential cause of autoimmune encephalitis even if patients are over 40 years of age,as the symptoms and signs are atypical for MELAS syndrome. 展开更多
关键词 MELAS mitochondrial dna mutation ENCEPHALITIS Case report
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Benchmark Dose Assessment for Coke Oven Emissions-Induced Mitochondrial DNA Copy Number Damage Effects
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作者 YAN Zhao Fan GU Zhi Guang +8 位作者 FAN Ya Hui LI Xin Ling NIU Ze Ming DUAN Xiao Ran Mallah Ali Manthar ZHANG Qiao YANG Yong Li YAO Wu WANG Wei 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2023年第6期490-500,共11页
Objective The study aimed to estimate the benchmark dose(BMD)of coke oven emissions(COEs)exposure based on mitochondrial damage with the mitochondrial DNA copy number(mtDNAcn)as a biomarker.Methods A total of 782 subj... Objective The study aimed to estimate the benchmark dose(BMD)of coke oven emissions(COEs)exposure based on mitochondrial damage with the mitochondrial DNA copy number(mtDNAcn)as a biomarker.Methods A total of 782 subjects were recruited,including 238 controls and 544 exposed workers.The mtDNAcn of peripheral leukocytes was detected through the real-time fluorescence-based quantitative polymerase chain reaction.Three BMD approaches were used to calculate the BMD of COEs exposure based on the mitochondrial damage and its 95%confidence lower limit(BMDL).Results The mtDNAcn of the exposure group was lower than that of the control group(0.60±0.29 vs.1.03±0.31;P<0.001).A dose-response relationship was shown between the mtDNAcn damage and COEs.Using the Benchmark Dose Software,the occupational exposure limits(OELs)for COEs exposure in males was 0.00190 mg/m^(3).The OELs for COEs exposure using the BBMD were 0.00170 mg/m^(3)for the total population,0.00158 mg/m^(3)for males,and 0.00174 mg/m^(3)for females.In possible risk obtained from animal studies(PROAST),the OELs of the total population,males,and females were 0.00184,0.00178,and 0.00192 mg/m^(3),respectively.Conclusion Based on our conservative estimate,the BMDL of mitochondrial damage caused by COEs is0.002 mg/m^(3).This value will provide a benchmark for determining possible OELs. 展开更多
关键词 Coke oven emissions mitochondrial dna copy number Benchmark dose Occupational exposure limits
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A Study on the D-loop Region of Mitochondrial DNA (mtDNA) Mutation in Cervical Carcinomas 被引量:1
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作者 XUE Wen-qun CHEN Dao-zhen 《实用临床医药杂志》 CAS 2009年第3期44-47,共4页
Objective Background-study on genesis and development of tumor is mainly concentrated on gene mutation in nucleus.In recent years,however,the role of mitochondrial DNA(mtDNA) mutation in tumor genesis has been given m... Objective Background-study on genesis and development of tumor is mainly concentrated on gene mutation in nucleus.In recent years,however,the role of mitochondrial DNA(mtDNA) mutation in tumor genesis has been given more and more attention,which is the only extra-nucleus DNA in cells of higher animals.Carcinoma of the uterine cervix is a common tumor in gynecology,but there are few reports of mtDNA mutation in this area.The focus of this study was to investigate the mtDNA mutation in tumor tissues of cervical carcinomas and their relationship to tumorigenesis and tumor development.Methods The D-loop region of 24 cervical carcinomas together with the adjacent normal tissues were amplified by PCR and sequenced.Results Among the 24 cervical carcinomas,30 mutations in 9 patients′ specimen were identified with the mutations rate of 37.5%(9/24).There were 8 microsatellite instabilities among the mutations and 13 new polymorphisms which were not reported previously in the Genbank.Conclusions The D-loop region of mitochondrial DNA is a highly polymorphoric and mutable region and the mutation rate is relatively high in patients with cervical carcinomas. 展开更多
关键词 肿瘤 dna 基因突变 基因疗法
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Inheritance of Chloroplast and Mitochondrial DNA in Chinese Fir (Cunninghamia lanceolata) 被引量:8
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作者 奇文清 杨慧君 +1 位作者 薛勇彪 胡适宜 《Acta Botanica Sinica》 CSCD 1999年第7期695-699,共5页
The inheritance of mitochondrial (mt) DNA and chloroplast (cp) DNA was investigated in intergeneric hybrids from crossing between Cunninghamia lanceolata (Lamb.) Hook. and Cryptomeria fortunei Hooibrenk. The c... The inheritance of mitochondrial (mt) DNA and chloroplast (cp) DNA was investigated in intergeneric hybrids from crossing between Cunninghamia lanceolata (Lamb.) Hook. and Cryptomeria fortunei Hooibrenk. The chloroplast trnL trnF region and one intra genic segment of the mitochondrial gene, Cox Ⅲ, were amplified from those of the parents and hybrids by PCR using gene specific primers. Cp and mtDNA polymorphisms of the amplified regions were detected between the parents after restriction digestions. Restriction fragment length polymorphism (RFLP) analysis revealed that all the F 1 individuals possessed Cox Ⅲ restriction fragment patterns (characteristic of the paternal parent Cryptomeria fortunei ) and the trnL trnF region (identical to the maternal parent Cunninghamia lanceolata ) showing that a different mode of inheritance for organelle DNA has occurred in the hybrids. Furthermore, the maternal inheritance of chloroplast DNA is reported here for the first time in coniferophyta. 展开更多
关键词 Cunninghamia lanceolata Cryptomeria fortunei Inheritance of chloroplast dna Inheritance of mitochondrial dna Restriction fragment length polymorphism
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体外受精囊胚培养液中mtDNA拷贝数与囊胚发育潜能的相关性研究
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作者 蔡桂丰 徐楗荧 +4 位作者 阮永铭 曾伟荣 赵琴 许伟标 吴松 《生殖医学杂志》 CAS 2023年第2期202-207,共6页
目的探讨第5/6天发育囊胚(D5/D6囊胚)培养液中线粒体DNA(mtDNA)拷贝数与胚胎质量的关系。方法收集2021年7—12月在珠海市妇幼保健院生殖中心行胚胎植入前遗传学检测(PGT)的10名患者的36枚D5/D6囊胚的活检细胞和培养液样本,应用高通量测... 目的探讨第5/6天发育囊胚(D5/D6囊胚)培养液中线粒体DNA(mtDNA)拷贝数与胚胎质量的关系。方法收集2021年7—12月在珠海市妇幼保健院生殖中心行胚胎植入前遗传学检测(PGT)的10名患者的36枚D5/D6囊胚的活检细胞和培养液样本,应用高通量测序(NGS)方法检测分析囊胚活检细胞的非整倍体性和培养液中mtDNA拷贝数。根据囊胚形态学评价分为高质量、一般质量、低质量囊胚3组,根据囊胚发育时间分为D5和D6囊胚组,根据染色体整倍体性分为整倍体和非整倍体囊胚组,比较各组间囊胚培养液中mtDNA拷贝数的差异。结果36枚囊胚中D5囊胚33枚(D5囊胚组)、D6囊胚3枚(D6囊胚组);高质量囊胚21枚(高质量囊胚组)、一般质量囊胚12枚(一般质量囊胚组)、低质量囊胚3枚(低质量囊胚组);整倍体囊胚19枚(整倍体囊胚组),非整倍体囊胚17枚(非整倍体囊胚组)。高质量囊胚组培养液中mtDNA拷贝数[(150.24±166.24)]略高于一般质量囊胚组[(110.58±92.83)]和低质量囊胚组[(91.00±0.82)],但差异无统计学意义(P>0.05)。D5囊胚组培养液中mtDNA拷贝数[(137.64±143.57)]略高于D6囊胚组[(71.00±54.52)],但差异无统计学意义(P>0.05)。整倍体囊胚组培养液中mtDNA拷贝数[(144.79±162.17)]略高于非整倍体囊胚组[(117.88±107.14)],差异亦无统计学意义(P>0.05)。结论不同形态学评级、囊胚发育时间和染色体整倍体性囊胚培养液中mtDNA拷贝数无显著差异,胚胎质量与培养液中mtDNA拷贝数的关系有待进一步确认。 展开更多
关键词 囊胚培养液 胚胎质量 mtdna 高通量测序
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Sequence Analysis of Mitochondrial DNA D-loop Region in Xinjiang Goose 被引量:1
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作者 邵勇钢 岳涛 +1 位作者 李建华 刘银凤 《Agricultural Science & Technology》 CAS 2012年第11期2290-2292,2337,共4页
[Objective] The sequences of mitochondrial DNA D-loop region of Xinjiang Goose with three different colors of plumage were analyzed in order to study the genetic diversity of Xinjiang Goose, as well as the phylogeny a... [Objective] The sequences of mitochondrial DNA D-loop region of Xinjiang Goose with three different colors of plumage were analyzed in order to study the genetic diversity of Xinjiang Goose, as well as the phylogeny and evolution. [Method] Ten geese were selected randomly from the core populations of grey-, mosaic- and white-plumaged Xinjiang Goose respectively with a total number of thirty as experi- mental materials, of which the blood samples were collected from the largest vein under the wing (brachial vein) for DNA extraction. Sequences of mitochondrial DNA D-loop regions were determined using DNA sequencing technology to analyze the polymorphism. In addition, the genetic distances among different populations were estimated through the comparison with the reference sequences. [Resull] The con- tents of A, G, C and T nucleotides in the D-loop region of Xinjiang Goose were 28.85%, 17.05%, 25.38% and 28.72%, respectively. The average haplotype diversity and nucleotide diversity of Xinjiang Goose were 0.583 and 0.056. Xinjiang Goose and Greylag Goose were clustered into the same group. [Conclusion] The results showed that Xinjiang Geese with three different colors of plumage all descend from Greylag Goose (Anser anser). 展开更多
关键词 Xinjiang Goose mitochondrial dna D-loop region Sequence analysis
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Genetic Polymorphism of Mitochondrial DNA in Dong,Gelao,Tujia,and Yi Ethnic Populations from Guizhou,China
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作者 李彬彬 钟复光 +5 位作者 易红生 王先然 李良芳 王丽兰 齐晓岚 吴立甫 《Journal of Genetics and Genomics》 SCIE CAS CSCD 北大核心 2007年第9期800-811,共12页
To reveal the genetic structures and relationships of the four ethnic populations from the maternal inheritance and explore the origins and migrations of nationalities, the genetic polymorphism of mtDNA in Dong, Gelao... To reveal the genetic structures and relationships of the four ethnic populations from the maternal inheritance and explore the origins and migrations of nationalities, the genetic polymorphism of mtDNA in Dong, Gelao, Tujia, and Yi populations from Guizhou was studied by direct sequencing of hypervariable segment Ⅰ (HVS Ⅰ ) and PCR-RFLP of coding region. Thirty-seven (sub-) haplogroups were identified in the classification tree of mtDNA haplogroups. Haplogroup distributions and principal component (PC) analysis showed that the Dong has high frequencies of south-prevalent haplogroups, which indicates that it is a typically southern population. The Yi harbors high frequencies of the south-prevalent and northern-prevalent haplogroups, which demonstrates that it inherits the maternal characteristics from both southern and northern populations. The Yi and Gelao cluster together, the reason for which might be that their ancestries frequently underwent gene exchanges and mixtures. 展开更多
关键词 ethnic populations in Guizhou mitochondrial dna POLYMORPHISM
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视神经脊髓炎谱系疾病患儿外周血线粒体DNA及细胞因子的作用研究
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作者 张美 谭自明 +2 位作者 王君 杨智翔 罗琼 《新疆医科大学学报》 CAS 2024年第10期1335-1339,1347,共6页
目的基于外周血线粒体DNA-TLR9信号通路探讨视神经脊髓炎谱系疾病中线粒体DNA(mtDNA)和细胞因子的功能作用及其影响机制。方法选取2020年12月-2023年12月就诊于本院的20例视神经脊髓炎谱系疾病患者为病例组,并选取同期性别与年龄相似的... 目的基于外周血线粒体DNA-TLR9信号通路探讨视神经脊髓炎谱系疾病中线粒体DNA(mtDNA)和细胞因子的功能作用及其影响机制。方法选取2020年12月-2023年12月就诊于本院的20例视神经脊髓炎谱系疾病患者为病例组,并选取同期性别与年龄相似的正常体检的健康儿童20例为对照组。采用化学发光免疫分析法(CBA法)测定病例组患者血清及脑脊液中水通道蛋白4抗体(AQP4-Ab)和髓鞘少突胶质细胞糖蛋白抗体(MOG-Ab)的表达。利用酶联免疫吸附试验(ELISA)对比两组血清中白细胞介素-6(IL-6)、白细胞介素-1(IL-1)、白细胞介素-1β(IL-1β)、肿瘤坏死因子-α(TNF-α)的水平。使用线粒体DNA抽提工具包检测外周血线粒体DNA拷贝数,并对两组进行比较。结果病例组中外周血线粒体DNA拷贝数(0.80±0.02)显著高于对照组(0.78±0.02),差异有统计学意义(t=3.614,P<0.01)。与对照组比较,病例组中IL-6及IL-1β水平有所升高,但差异无统计学意义(P>0.05);与对照组比较,病例组中IL-1及TNF-α水平明显升高,差异有统计学意义(P<0.05)。与AQP4-IgG阴性组比较,AQP4-IgG阳性组TNF-α水平降低,扩展残疾状况量表(EDSS)评分增高,差异有统计学意义(P<0.05);与AQP4-IgG阴性组比较,AQP4-IgG阳性组IL-6、IL-1β、mtDNA降低,IL-1升高,但差异无统计学意义(P>0.05)。结论视神经脊髓炎谱系疾病的发病机制可能涉及线粒体DNA和细胞因子,这些因子通过天然免疫反应的路径可能对疾病进程产生影响。 展开更多
关键词 视神经脊髓炎谱系疾病 水通道蛋白 细胞因子 线粒体dna
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转录因子MYB转录调控MTFR2通过DNA损伤修复促进胃癌细胞化疗耐药性
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作者 李春兴 迪力旦·纳斯尔 +1 位作者 托合提阿吉·巴拉提 阿不都外力·吾守尔 《遵义医科大学学报》 2024年第9期857-867,共11页
目的探究v-myb禽成髓细胞病病毒癌基因同源物(MYB)转录调控线粒体裂变调节因子2(MTFR2)对胃癌(GC)细胞顺铂(DDP)耐药性的影响及分子作用机制。方法TCGA数据库分析GC中差异mRNA并预测上游调控分子,qRT-PCR检测MTFR2和MYB的表达,双荧光素... 目的探究v-myb禽成髓细胞病病毒癌基因同源物(MYB)转录调控线粒体裂变调节因子2(MTFR2)对胃癌(GC)细胞顺铂(DDP)耐药性的影响及分子作用机制。方法TCGA数据库分析GC中差异mRNA并预测上游调控分子,qRT-PCR检测MTFR2和MYB的表达,双荧光素酶和染色质免疫共沉淀(ChIP)实验验证MTFR2和MYB的调控关系,细胞计数盒8(CCK-8)检测细胞活力并计算IC_(50)值,流式细胞术检测细胞周期和细胞凋亡,彗星实验检测DNA损伤,蛋白质免疫印迹法检测DNA损伤相关蛋白(γ-H2AX、ATM、p-ATM)的表达。结果MTFR2在GC组织和细胞中显著高表达,敲低MTFR2能够降低细胞增殖,阻滞S期,诱导细胞凋亡,促进DNA损伤和DDP敏感性。生信预测MTFR2存在上游转录因子MYB,MYB在GC组织和细胞中的表达显著上调,双荧光素酶和ChIP验证了MTFR2启动子区域与MYB的结合关系。回复实验发现进一步过表达MTFR2能够逆转敲低MYB对GC细胞增殖和DDP耐药性的抑制作用。结论MYB上调MTFR2的表达通过DNA损伤途径促进GC细胞增殖和DDP耐药,表明靶向MYB/MTFR2调控轴可能是克服GC DDP耐药性的潜在途径。 展开更多
关键词 V-myb禽成髓细胞瘤病毒癌基因同源物 线粒体裂变调节因子2 dna损伤修复 胃癌 顺铂耐药
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线粒体DNA含量及10398位点在健康及宫颈癌人群中的分析
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作者 丰大利 张丽瑾 黄华忠 《中国现代医生》 2024年第21期86-89,共4页
目的探讨血清中线粒体DNA(mitochondrial DNA,mtDNA)含量和10398位点突变情况检测的临床意义。方法收集2020年1月至12月在宜昌市第二人民医院体检的314名健康女性纳入健康体检组,同时收集2020年1月至2023年12月在宜昌市第二人民医院就诊... 目的探讨血清中线粒体DNA(mitochondrial DNA,mtDNA)含量和10398位点突变情况检测的临床意义。方法收集2020年1月至12月在宜昌市第二人民医院体检的314名健康女性纳入健康体检组,同时收集2020年1月至2023年12月在宜昌市第二人民医院就诊的82例宫颈癌患者纳入宫颈癌组。检测两组纳入者的血清样本mtDNA含量及10398位点基因型,并比较两组纳入者的指标差异。结果宫颈癌组患者的mtDNA含量高于健康体检组,差异有统计学意义(P<0.05);两组纳入者在10398位点基因型差异无统计学意义(P>0.05)。健康体检组中≥45岁的女性mtDNA含量更高,差异有统计学意义(P<0.05);mtDNA在不同10398位点的分布差异无统计学意义(P>0.05)。宫颈癌组中≥45岁的患者mtDNA含量更高,差异有统计学意义(P<0.05);不同临床分期、不同病理类型患者的mtDNA含量差异无统计学意义(P>0.05),mtDNA在不同10398位点中的含量差异无统计学意义(P>0.05)。结论mtDNA含量检测对健康体检人群与宫颈癌人群均有一定的意义,两组纳入者的mtDNA含量均与年龄相关,均随着年龄增长而升高;宫颈癌患者的mtDNA含量明显高于健康体检者;10398位点的血清mtDNA含量检测对两组人群的意义不大;宫颈癌人群的mtDNA含量及10398位点分布与病理、临床分期均无关。mtDNA含量检测可考虑作为宫颈癌诊断的血清标志物。 展开更多
关键词 线粒体dna 10398位点突变 宫颈癌 健康人群
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线粒体DNA含量在结直肠癌中的预后价值 被引量:1
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作者 杜杨斌 郭文文 何震宇 《南京医科大学学报(自然科学版)》 CAS 北大核心 2024年第5期681-687,共7页
目的:探究组织线粒体DNA(mitochondrial DNA,mtDNA)含量和结直肠癌预后相关性。方法:选取117例结直肠癌患者并收集临床病理资料。运用RT-qPCR检测患者癌组织与癌旁组织mtDNA含量,探究mtDNA含量与各项预后指标的相关性。绘制受试者工作特... 目的:探究组织线粒体DNA(mitochondrial DNA,mtDNA)含量和结直肠癌预后相关性。方法:选取117例结直肠癌患者并收集临床病理资料。运用RT-qPCR检测患者癌组织与癌旁组织mtDNA含量,探究mtDNA含量与各项预后指标的相关性。绘制受试者工作特征(receiver operating characteristic,ROC)曲线,根据截断值区分患者并绘制无病生存期(disease free survival,DFS)曲线。单因素和多因素Cox回归分析探究术后DFS相关的危险因素。结果:与癌旁组织相比,癌组织mtDNA含量差异无统计学意义(P=0.432);低mtDNA含量与肿瘤位于结肠、低分化、TNM分期差、淋巴结转移相关(P <0.05)。ROC曲线提示mtDNA含量为500.699可作为截断值。单因素和多因素分析显示,mtDNA含量低于500.699(HR=4.285,95%CI:1.938~9.475)、肿瘤低分化(HR=2.886,95%CI:1.428~5.835)是与DFS相关的独立危险因素。结论:结直肠癌患者中,组织mtDNA含量与临床病理特征有关,低mtDNA含量是患者预后相关的独立危险因素。 展开更多
关键词 线粒体dna 结直肠癌 预后 肿瘤复发 无病生存期
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