UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor
UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor
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DOI：
10.1177/1352458506070454
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发表时间：
2007-05-01
期刊：
影响因子：
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通讯作者：
de Munain, A. Lopez
中科院分区：
文献类型：
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作者：
Otaegui, D.;Saenz, A.;de Munain, A. Lopez
在进一步寻找遗传易感性因素的实际情况中，最近的一篇论文指出UCP2基因中的SNP是多发性硬化症（MS）的风险因素。UCP2是线粒体质子转运家族的成员，其将质子进入线粒体基质与ATP合成解偶联。mtDNA单倍型群也与ATP的产生有关，并与线粒体质子转运有关。在这项工作中，我们研究了UCP2 SNP和线粒体单倍型群分布在西班牙MS人口，人口亚组的巴斯克起源的患者。我们的研究结果证实了UCP2 SNP与MS之间的联系，并显示了该SNP与线粒体单倍型群之间的轻微关系。
In the actual scenario of the search for further genetic susceptibility factors, a recent paper noted an SNP in the UCP2 gene as a multiple sclerosis (MS) risk factor. UCP2 is a member of the mitochondrial proton transport family, which uncouples proton entry in the mitochondrial matrix from ATP synthesis. mtDNA haplogroups are also associated with ATP production, and are linked with mitochondrial proton transport. In this work, we studied the UCP2 SNP and the mitochondrial haplogroups distribution in a Spanish MS population, with a population sub-group of Basque-origin patients. Our results confirm the link between UCP2 SNP and MS, and show a slight relation between this SNP and mitochondrial haplogroups.