Chalmers R M, Robertson N, Kellar-Wood H, Compston D A, Harding A E
University Department of Clinical Neurology (Neurogenetics Section), Institute of Neurology, London, UK.
J Neurol. 1995 May;242(5):332-4. doi: 10.1007/BF00878877.
There is some evidence that mitochondrial genes may contribute to susceptibility to multiple sclerosis (MS), and a mitochondrial DNA-encoded peptide, the N-terminal portion of NADH-dehydrogenase subunit 1, acts as a transplantation antigen in mice. We have analysed the DNA sequence of the corresponding region of human mitochondrial DNA in 87 patients with MS, 10 with Leber's hereditary optic neuropathy in association with an MS-like illness, and 31 control subjects. This sequence appears to be highly conserved. Only three base pair changes were identified, each being found once only in one control and two patients, and these are likely to be harmless polymorphisms. There is thus no evidence that polymorphism in this region contributes to genetic susceptibility in MS.
有证据表明线粒体基因可能与多发性硬化症（MS）的易感性有关，并且一种线粒体DNA编码的肽，即NADH脱氢酶亚基1的N端部分，在小鼠中作为移植抗原起作用。我们分析了87例MS患者、10例伴有类MS疾病的Leber遗传性视神经病变患者以及31名对照者的人类线粒体DNA相应区域的DNA序列。该序列似乎高度保守。仅鉴定出三个碱基对变化，每个变化仅在一名对照者和两名患者中各出现一次，这些可能是无害的多态性。因此，没有证据表明该区域的多态性会导致MS的遗传易感性。
