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Mitochondrial DNA 4977-bp deletion in endometriosis

机译:子宫内膜异位症线粒体DNA 4977-bp缺失

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摘要

Endometriosis is a multifactorial gynecological condition characterized by the presence of ectopic endometrial and stromal tissue outside the uterus. Free radicals and Oxidative stress have been proposed to be involved in the pathogenesis of the endometriosis. It has been shown that mitochondrial DNA (mtDNA) is particularly susceptible to oxidative damage and mutations due to the high rate of reactive oxygen species production and limited DNA repair capacity in mitochondria. While a number of deletions can occur, the most commonly studied in human is a 4977-bp deletion that removes all or parts of the genes for NADH dehydrogenase subunits 3, 4, 4L and 5, cytochrome C oxidase subunit III and ATP synthase subunits 6 and 8.” We evaluated whether mtDNA common deletion is related with the susceptibility to endometriosis in northern Iran. In this study 80 endometriosis cases and 100 controls were enrolled. Total DNA was extracted from endometrial tissue samples. The mitochondrial common deletion was determined by Gap- polymerase chain reaction (Gap-PCR). It was found that the mitochondrial common deletion was more likely to be present in patients with endometriosis. Assessing indicate that 60 % of patients and 8 % of controls show mtDNA 4977-bp deletion (Odds Ratio [OR] = 17.25, P < 0.0001, confidence interval [CI] = 5.18–57.36). The mtDNA 4977 deletion may play a role in endometriosis. Further studies with larger numbers of patients are required for further evaluation and confirmation of our finding.
机译:子宫内膜异位是一种多因素妇科疾病,其特征是子宫外存在异位子宫内膜和间质组织。已经提出自由基和氧化应激参与子宫内膜异位症的发病机理。已经表明,线粒体DNA(mtDNA)特别容易受到氧化损伤和突变的影响,这归因于线粒体中高活性氧的产生速率和有限的DNA修复能力。尽管可能发生许多缺失,但人类最常研究的缺失是4977 bp缺失,可删除NADH脱氢酶亚基3、4、4L和5,细胞色素C氧化酶亚基III和ATP合酶亚基6的全部或部分基因。和8。”我们评估了mtDNA常见缺失是否与伊朗北部子宫内膜异位症的易感性有关。在这项研究中,纳入了80例子宫内膜异位病例和100例对照。从子宫内膜组织样品中提取总DNA。线粒体常见缺失通过Gap-聚合酶链反应(Gap-PCR)确定。发现子宫内膜异位症患者更可能存在线粒体常见缺失。评估表明60%的患者和8%的对照显示mtDNA 4977-bp缺失(几率[OR] = 17.25,P <0.0001,置信区间[CI] = 5.18-57.36)。 mtDNA 4977缺失可能在子宫内膜异位症中起作用。需要对更多患者进行进一步研究,以进一步评估和证实我们的发现。

著录项

  • 来源
    《Genes & Genomics》 |2013年第5期|563-567|共5页
  • 作者单位

    Department of Biology Faculty of Sciences University of Guilan">(1);

    Department of Biology Faculty of Sciences University of Guilan">(1);

    Reproductive Health Research Center Obstetrics Gynecology Department Alzahra Hospital Guilan University of Medical Sciences">(2);

    Arya Hospital">(3);

    Department of Biology Faculty of Sciences University of Guilan">(1);

  • 收录信息
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
  • 关键词

    mtDNA; Mutation; Infertility; Endometriosis;

    机译:线粒体突变;不孕症子宫内膜异位症;

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