高级检索

留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

外周血线粒体DNA拷贝数检测及影响因素

李梦颖 郭欢

李梦颖, 郭欢. 外周血线粒体DNA拷贝数检测及影响因素[J]. 中国公共卫生, 2021, 37(11): 1704-1708. doi: 10.11847/zgggws1132373
引用本文: 李梦颖, 郭欢. 外周血线粒体DNA拷贝数检测及影响因素[J]. 中国公共卫生, 2021, 37(11): 1704-1708. doi: 10.11847/zgggws1132373
LI Meng-ying, GUO Huan. Detection and influencing factors of peripheral blood mitochondrial DNA copy number: a review[J]. Chinese Journal of Public Health, 2021, 37(11): 1704-1708. doi: 10.11847/zgggws1132373
Citation: LI Meng-ying, GUO Huan. Detection and influencing factors of peripheral blood mitochondrial DNA copy number: a review[J]. Chinese Journal of Public Health, 2021, 37(11): 1704-1708. doi: 10.11847/zgggws1132373

外周血线粒体DNA拷贝数检测及影响因素

doi: 10.11847/zgggws1132373
基金项目: 国家自然科学基金优秀青年科学基金(81722038)
详细信息
    作者简介:

    李梦颖(1995 – ),女,湖北 武汉人,硕士在读,研究方向:环境与健康

    通信作者:

    郭欢,E-mail:ghuan5011@hust.edu.cn

  • 中图分类号: R 122

Detection and influencing factors of peripheral blood mitochondrial DNA copy number: a review

  • 摘要: 外周血线粒体DNA拷贝数(mtDNAcn)是反映机体氧化应激状态的新兴生物标志物,越来越多流行病学研究表明外周血mtDNAcn异常与心血管疾病、帕金森、恶性肿瘤等重大慢性疾病发生风险有关。因此,了解mtDNAcn的检测手段、寻找mtDNAcn这一疾病早期生物标志物的影响因素,对慢性病防控有着重要意义。本文针对外周血mtDNAcn相关检测技术和外周血mtDNAcn的影响因素研究进展进行综述,旨在为mtDNAcn疾病早期生物标志物的确定提供依据,为慢性病预防提供技术支撑。
  • [1] Yuan Y, Ju YS, Kim Y, et al. Comprehensive molecular characterization of mitochondrial genomes in human cancers[J]. Nature Genetics, 2020, 52(3): 342 – 352.
    [2] Shaughnessy DT, McAllister K, Worth L, et al. Mitochondria, energetics, epigenetics, and cellular responses to stress[J]. Environmental Health Perspectives, 2014, 122(12): 1271 – 1278.
    [3] Malik AN, Czajka A. Is mitochondrial DNA content a potential biomarker of mitochondrial dysfunction?[J]. Mitochondrion, 2013, 13(5): 481 – 492.
    [4] Liu CS, Tsai CS, Kuo CL, et al. Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes[J]. Free Radical Research, 2003, 37(12): 1307 – 1317.
    [5] Shen J, Platek M, Mahasneh A, et al. Mitochondrial copy number and risk of breast cancer: a pilot study[J]. Mitochondrion, 2010, 10(1): 62 – 68.
    [6] Duan XR, Yang YL, Zhang H, et al. Polycyclic aromatic hydrocarbon exposure, miRNA genetic variations, and associated leukocyte mitochondrial DNA copy number: a cross-sectional study in China[J]. Chemosphere, 2020, 246: 125773.
    [7] Lee HC, Wei YH. Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress[J]. The International Journal of Biochemistry and Cell Biology, 2005, 37(4): 822 – 834.
    [8] Rosa MJ, Just AC, Guerra MS, et al. Identifying sensitive windows for prenatal particulate air pollution exposure and mitochondrial DNA content in cord blood[J]. Environment International, 2017, 98: 198 – 203.
    [9] Ashar FN, Zhang Y, Longchamps RJ, et al. Association of mitochondrial DNA copy number with cardiovascular disease[J]. JAMA Cardiology, 2017, 2(11): 1247 – 1255.
    [10] Pyle A, Anugrha H, Kurzawa-Akanbi M, et al. Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease[J]. Neurobiology of Aging, 2016, 38: 216.e7 – 216.e10.
    [11] Reznik E, Miller ML, Şenbabaoğlu Y, et al. Mitochondrial DNA copy number variation across human cancers[J]. eLife, 2016, 5: e10769.
    [12] Saenen ND, Provost EB, Cuypers A, et al. Child's buccal cell mitochondrial DNA content modifies the association between heart rate variability and recent air pollution exposure at school[J]. Environment International, 2019, 123: 39 – 49.
    [13] Zhang WZ, Rice MC, Hoffman KL, et al. Association of urine mitochondrial DNA with clinical measures of COPD in the SPIROMICS cohort[J]. JCI Insight, 2020, 5(3): e133984.
    [14] Longchamps RJ, Castellani CA, Yang SY, et al. Evaluation of mitochondrial DNA copy number estimation techniques[J]. PLoS One, 2020, 15(1): e0228166.
    [15] Li B, Kaushik S, Kalinowski P, et al. Droplet digital PCR shows the D-Loop to be an error prone locus for mitochondrial DNA copy number determination[J]. Scientific Reports, 2018, 8(1): 11392.
    [16] Clemente DB, Casas M, Vilahur N, et al. Prenatal ambient air pollution, placental mitochondrial DNA content, and birth weight in the INMA (Spain) and ENVIRONAGE (Belgium) birth cohorts[J]. Environmental Health Perspectives, 2016, 124(5): 659 – 665.
    [17] Wu MY, Shu YL, Song LL, et al. Prenatal exposure to thallium is associated with decreased mitochondrial DNA copy number in newborns: evidence from a birth cohort study[J]. Environment International, 2019, 129: 470 – 477.
    [18] Wu SW, Li X, Meng SS, et al. Fruit and vegetable consumption, cigarette smoke, and leukocyte mitochondrial DNA copy number[J]. The American Journal of Clinical Nutrition, 2019, 109(2): 424 – 432.
    [19] Hurtado-Roca Y, Ledesma M, Gonzalez-Lazaro M, et al. Adjusting MtDNA quantification in whole blood for peripheral blood platelet and leukocyte counts[J]. PLoS One, 2016, 11(10): e0163770.
    [20] Shim HB, Arshad O, Gadawska I, et al. Platelet mtDNA content and leukocyte count influence whole blood mtDNA content[J]. Mitochondrion, 2020, 52: 108 – 114.
    [21] Knez J, Winckelmans E, Plusquin M, et al. Correlates of peripheral blood mitochondrial DNA content in a general population[J]. American Journal of Epidemiology, 2016, 183(2): 138 – 146.
    [22] Guyatt AL, Burrows K, Guthrie PAI, et al. Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women[J]. Mitochondrion, 2018, 39: 9 – 19.
    [23] Xing JL, Chen M, Wood CG, et al. Mitochondrial DNA content: its genetic heritability and association with renal cell carcinoma[J]. JNCI: Journal of the National Cancer Institute, 2008, 100(15): 1104 – 1112.
    [24] Alvarez V, Corao AI, Sánchez-Ferrero E, et al. Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease[J]. Neuroscience Letters, 2008, 432(1): 79 – 82.
    [25] Suliman HB, Carraway MS, Welty-Wolf KE, et al. Lipopolysaccharide stimulates mitochondrial biogenesis via activation of nuclear respiratory factor-1[J]. Journal of Biological Chemistry, 2003, 278(42): 41510 – 41518.
    [26] Copeland WC. Defects of mitochondrial DNA replication[J]. Journal of Child Neurology, 2014, 29(9): 1216 – 1224.
    [27] Ronchi D, Garone C, Bordoni A, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions[J]. Brain, 2012, 135(Pt 11): 3404 – 3415.
    [28] Cai N, Li YH, Chang S, et al. Genetic control over mtDNA and its relationship to major depressive disorder[J]. Current Biology, 2015, 25(24): 3170 – 3177.
    [29] Guyatt AL, Brennan RR, Burrows K, et al. A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts[J]. Human Genomics, 2019, 13(1): 6.
    [30] Dai JG, Zhang ZY, Liu QX, et al. Mitochondrial genome microsatellite instability and copy number alteration in lung carcinomas[J]. Asian Pacific Journal of Cancer Prevention, 2013, 14(4): 2393 – 2399.
    [31] Lien LM, Chiou HY, Yeh HL, et al. Significant association between low mitochondrial DNA content in peripheral blood leukocytes and ischemic stroke[J]. Journal of the American Heart Association, 2017, 6(11): e006157.
    [32] Xu YY, Wahlberg K, Love TM, et al. Associations of blood mercury and fatty acid concentrations with blood mitochondrial DNA copy number in the seychelles child development nutrition study[J]. Environment International, 2019, 124: 278 – 283.
    [33] Meng SS, Wu SW, Liang LM, et al. Leukocyte mitochondrial DNA copy number, anthropometric indices, and weight change in US women[J]. Oncotarget, 2016, 7(37): 60676 – 60686.
    [34] Ding J, Sidore C, Butler TJ, et al. Assessing mitochondrial DNA variation and copy number in lymphocytes of – 2 000 sardinians using tailored sequencing analysis tools[J]. PLoS Genetics, 2015, 11(7): e1005306.
    [35] Chang YK, Kim DE, Cho SH, et al. Association between leukocyte mitochondrial DNA copy number and regular exercise in postmenopausal women[J]. Korean Journal of Family Medicine, 2016, 37(6): 334 – 339.
    [36] Wrede JE, Mengel-From J, Buchwald D, et al. Mitochondrial DNA copy number in sleep duration discordant monozygotic twins[J]. Sleep, 2015, 38(10): 1655 – 1658.
    [37] Hou LF, Zhu ZZ, Zhang X, et al. Airborne particulate matter and mitochondrial damage: a cross-sectional study[J]. Environmental Health, 2010, 9: 48.
    [38] Wang XM, Hart JE, Liu Q, et al. Association of particulate matter air pollution with leukocyte mitochondrial DNA copy number[J]. Environment International, 2020, 141: 105761.
    [39] Wong JYY, Hu W, Downward GS, et al. Personal exposure to fine particulate matter and benzo[a]pyrene from indoor air pollution and leukocyte mitochondrial DNA copy number in rural China[J]. Carcinogenesis, 2017, 38(9): 893 – 899.
    [40] Xia YJ, Chen RJ, Wang CC, et al. Ambient air pollution, blood mitochondrial DNA copy number and telomere length in a panel of diabetes patients[J]. Inhalation Toxicology, 2015, 27(10): 481 – 487.
    [41] Wang MQ, Zhao JS, Wang Y, et al. Genome-wide DNA methylation analysis reveals significant impact of long-term ambient air pollution exposure on biological functions related to mitochondria and immune response[J]. Environmental Pollution, 2020, 264: 114707.
    [42] Allen JA, Coombs MM. Covalent binding of polycyclic aromatic compounds to mitochondrial and nuclear DNA[J]. Nature, 1980, 287(5779): 244 – 245.
    [43] Kuang D, Zhang WZ, Deng QF, et al. Dose-response relationships of polycyclic aromatic hydrocarbons exposure and oxidative damage to DNA and lipid in coke oven workers[J]. Environmental Science and Technology, 2013, 47(13): 7446 – 7456.
    [44] Pavanello S, Dioni L, Hoxha M, et al. Mitochondrial DNA copy number and exposure to polycyclic aromatic hydrocarbons[J]. Cancer Epidemiology Biomarkers and Prevention, 2013, 22(10): 1722 – 1729.
    [45] Hou J, Yin WJ, Li P, et al. Seasonal modification of the associations of exposure to polycyclic aromatic hydrocarbons or phthalates of cellular aging[J]. Ecotoxicology and Environmental Safety, 2019, 182: 109384.
    [46] Pieters N, Koppen G, Smeets K, et al. Decreased mitochondrial DNA content in association with exposure to polycyclic aromatic hydrocarbons in house dust during wintertime: from a population enquiry to cell culture[J]. PLoS One, 2013, 8(5): e63208.
    [47] Zhao XY, Yang AM, Fu Y, et al. Reduction of mitochondrial DNA copy number in peripheral blood is related to polycyclic aromatic hydrocarbons exposure in coke oven workers: Bayesian kernel machine regression[J]. Environmental Pollution, 2020, 260: 114026.
    [48] IARC Working Group on the Evaluation of Carcinogenic Risks to Humans. Chemical agents and related occupations[J]. IARC Monographs on the Evaluation of Carcinogenic Risks to Humans, 2012, 100: 9 – 562.
    [49] Shen M, Zhang LP, Bonner MR, et al. Association between mitochondrial DNA copy number, blood cell counts, and occupational benzene exposure[J]. Environmental and Molecular Mutagenesis, 2008, 49(6): 453 – 457.
    [50] Carugno M, Pesatori AC, Dioni L, et al. Increased mitochondrial DNA copy number in occupations associated with low-dose benzene exposure[J]. Environmental Health Perspectives, 2012, 120(2): 210 – 215.
    [51] Li AQ, Sun Y, Wang TS, et al. Effects of micronucleus frequencies and mitochondrial DNA copy numbers among benzene-exposed workers in China[J]. Environmental And Molecular Mutagenesis, 2020, 61(3): 355 – 360.
    [52] Ameer SS, Xu YY, Engström K, et al. Exposure to inorganic arsenic is associated with increased mitochondrial DNA copy number and longer telomere length in peripheral blood[J]. Frontiers in Cell and Developmental Biology, 2016, 4: 87.
    [53] Li ZG, Liu HJ, Qian Y, et al. Influence of metals from e-waste dismantling on telomere length and mitochondrial DNA copy number in people living near recycling sites[J]. Environment International, 2020, 140: 105769.
    [54] Vriens A, Nawrot TS, Janssen BG, et al. Exposure to environmental pollutants and their association with biomarkers of aging: a multipollutant approach[J]. Environmental Science and Technology, 2019, 53(10): 5966 – 5976.
    [55] Ghosh M, Janssen L, Martens DS, et al. Increased telomere length and mtDNA copy number induced by multi-walled carbon nanotube exposure in the workplace[J]. Journal of Hazardous Materials, 2020, 394: 122569.
  • 加载中
计量
  • 文章访问数:  1304
  • HTML全文浏览量:  806
  • PDF下载量:  108
  • 被引次数: 0
出版历程
  • 接收日期:  2020-09-08
  • 网络出版日期:  2021-08-12
  • 刊出日期:  2021-11-10

目录

    /

    返回文章
    返回