Mitochondrial DNA copy number, but not haplogroup, confers a genetic susceptibility to leprosy in Han Chinese from Southwest China.
Mitochondrial DNA copy number, but not haplogroup, confers a genetic susceptibility to leprosy in Han Chinese from Southwest China.
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DOI：
10.1371/journal.pone.0038848
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Yao YG
中科院分区：
文献类型：
--
作者：
Wang D;Su LY;Zhang AM;Li YY;Li XA;Chen LL;Long H;Yao YG
麻风病是一种由麻风分枝杆菌引起的慢性传染病，麻风分枝杆菌是一种基因组异常受损的不可培养病原体。麻风分枝杆菌基因功能的高度失活，包括其代谢途径中的许多基因，导致对宿主能量生产和营养产品的依赖。我们假设宿主细胞动力源——线粒体——可能影响宿主对麻风分枝杆菌的易感性和临床麻风病的发病，这可能通过线粒体 DNA (mtDNA) 背景和 mtDNA 拷贝数反映出来。我们分析了来自云南省的 534 名麻风病患者和 850 名匹配对照者的 mtDNA 序列变异，并按单倍群对每个受试者进行分类。在这些受试者的子集（296 名患者和 231 名对照）和 12 名麻风病患者诊断后，测量了 mtDNA 拷贝数，与 mtDNA 含量成正比。病例和对照人群的母系成分比较显示没有显着差异。然而，mtDNA拷贝数的测量显示，麻风病患者的mtDNA含量显着高于对照组（P = 0.008）。过去的药物治疗对线粒体DNA拷贝数的改变没有影响。我们的结果表明，mtDNA 含量而非单倍群影响麻风病，并且这种影响仅限于麻风病的临床亚型。
Leprosy is a chronic infectious disease caused by Mycobacterium leprae, an unculturable pathogen with an exceptionally eroded genome. The high level of inactivation of gene function in M. leprae, including many genes in its metabolic pathways, has led to a dependence on host energy production and nutritional products. We hypothesized that host cellular powerhouse - the mitochondria - may affect host susceptibility to M. leprae and the onset of clinical leprosy, and this may be reflected by mitochondrial DNA (mtDNA) background and mtDNA copy number. We analyzed the mtDNA sequence variation of 534 leprosy patients and 850 matched controls from Yunnan Province and classified each subject by haplogroup. mtDNA copy number, taken to be proportional to mtDNA content, was measured in a subset of these subjects (296 patients and 231 controls) and 12 leprosy patients upon diagnosis. Comparison of matrilineal components of the case and control populations revealed no significant difference. However, measurement of mtDNA copy number showed that lepromatous leprosy patients had a significantly higher mtDNA content than controls (P = 0.008). Past medical treatments had no effect on the alteration of mtDNA copy number. Our results suggested that mtDNA content, but not haplogroup, affects leprosy and this influence is limited to the clinical subtype of lepromatous leprosy.
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