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Analysis of variants in mitochondrial genome and their putative pathogenicity in Tuberculosis patients from Mizoram, North east India
Mitochondrion ( IF 4.4 ) Pub Date : 2020-09-01 , DOI: 10.1016/j.mito.2020.06.012
Mary Vanlalhruaii Tonsing 1 , Christine Vanlalbiakdiki Sailo 1 , Zothansanga 2 , Lily Chhakchhuak 2 , Zothankhuma Chhakchhuak 2 , Bhaswati Pandit 3 , Dhiraj Kumar 4 , Partha Pratim Mazumder 3 , Nachimuthu Senthil Kumar 1
Affiliation  

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.

中文翻译:

印度东北部米佐拉姆邦结核病患者线粒体基因组变异及其假定致病性分析

由结核分枝杆菌引起的结核病是全球主要的健康问题之一。在这项研究中,分析了来自结核病患者血液样本的整个线粒体基因组,以了解可能的 mtDNA 变异。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 2 个变体(MT-ND2 g.A>G4824 p.T119A 和 MT-ND6 g.T>C14180 p.Y165C)仅在病例中被发现是有害的。大多数变体位于线粒体 DNA 非蛋白质编码区的 D 环中。我们建议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。
更新日期:2020-09-01
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