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分析印度东北部米佐拉姆邦结核病人线粒体基因组中的变异及其潜在的致病性。

Analysis of variants in mitochondrial genome and their putative pathogenicity in tuberculosis patients from Mizoram, North east India.

机构信息

Department of Biotechnology, Mizoram University, Aizawl 796004, Mizoram, India.

DR-TB Centre, Department of Health and Family Welfare, Falkawn 796005, Mizoram, India.

出版信息

Mitochondrion. 2020 Sep;54:21-25. doi: 10.1016/j.mito.2020.06.012. Epub 2020 Jul 9.

DOI:10.1016/j.mito.2020.06.012
PMID:32652230
Abstract

Tuberculosis caused by Mycobacterium tuberculosis is one of the main global health concerns. In this study, the entire mitochondrial genome from blood samples of tuberculosis patients was analyzed to understand the possible mtDNA variants. The potential impact of non-synonymous substitutions on protein functions were determined using prediction tools. 28 non- synonymous variants were found of which 2 variants (MT-ND2 g. A > G4824 p.T119A and MT-ND6 g. T > C14180 p.Y165C) were found to be deleterious among the cases only. Majority of the variants lie in the D-loop of the non-protein coding region of the mitochondrial DNA. We propose that mutations in the mitochondrial genome need to be validated further to understand their association with tuberculosis.

摘要

结核分枝杆菌引起的结核病是全球主要的健康关注点之一。在这项研究中,我们分析了结核病患者血液样本中的整个线粒体基因组,以了解可能存在的 mtDNA 变体。我们使用预测工具确定非同义替换对蛋白质功能的潜在影响。发现了 28 个非同义变体,其中仅在病例中发现了 2 个变体(MT-ND2 g. A>G4824 p.T119A 和 MT-ND6 g. T>C14180 p.Y165C)是有害的。大多数变体位于线粒体 DNA 的非编码区的 D 环中。我们提出需要进一步验证线粒体基因组中的突变,以了解它们与结核病的关联。

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