线粒体DNA在多发性硬化易感性中的作用研究。
Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.
作者信息
Ban Maria, Elson Joanna, Walton Amie, Turnbull Douglas, Compston Alastair, Chinnery Patrick, Sawcer Stephen
机构信息
Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom.
出版信息
PLoS One. 2008 Aug 6;3(8):e2891. doi: 10.1371/journal.pone.0002891.
Abstract
Several lines of evidence suggest that mitochondrial genetic factors may influence susceptibility to multiple sclerosis. To explore this hypothesis further, we re-sequenced the mitochondrial genome (mtDNA) from 159 patients with multiple sclerosis and completed a haplogroup analysis including a further 835 patients and 1,506 controls. A trend towards over-representation of super-haplogroup U was the only evidence for association with mtDNA that we identified in these samples. In a parallel analysis of nuclear encoded mitochondrial genes, we also found a trend towards association with the complex I gene, NDUFS2. These results add to the evidence suggesting that variation in mtDNA and nuclear encoded mitochondrial genes may contribute to disease susceptibility in multiple sclerosis.
摘要
多项证据表明，线粒体遗传因素可能影响多发性硬化症的易感性。为了进一步探究这一假说，我们对159例多发性硬化症患者的线粒体基因组（mtDNA）进行了重测序，并对另外835例患者和1506例对照进行了单倍群分析。我们在这些样本中发现的与mtDNA相关的唯一证据是超级单倍群U的过度代表性趋势。在对核编码线粒体基因的平行分析中，我们还发现了与复合体I基因NDUFS2相关的趋势。这些结果进一步证明，mtDNA和核编码线粒体基因的变异可能导致多发性硬化症的疾病易感性。
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