Ghabaee Mojdeh, Omranisikaroudi Motahar, Amrisaroukolaei Shahla, Meysamie Alipasha, Sahraian Mohammad Ali, Bayati Asghar, Sanati Mohammad Hossein, Houshman Mossoud, Sadeghian Homa, Vajihazaman Khalili
Department of Neurology, Iranian Center of Neurological Research, Tehran University of Medical Sciences, Keshavarz Blvd., Tehran, Iran.
Cell Mol Neurobiol. 2009 May;29(3):341-6. doi: 10.1007/s10571-008-9325-7. Epub 2008 Nov 14.
As multiple sclerosis (MS) has long been known to be associated with Leber, hereditary optic neuropathy (LHON), a disease caused by mitochondrial (mtDNA) mutations, in this study we assessed possible involvement of mtDNA point mutation in MS patients. Fifty-two MS patients whose disease was confirmed with revised McDonald criteria and referred to Iranian Center of Neurological Research of Imam Khomeini hospital during 2006-2007 entered the study. Secondary mtDNA mutations, age, gender, clinical disability according to expanded disability status scale (EDSS), course of the disease, and presenting symptoms were the variables investigated in this study. DNA purification was performed by Diatom DNA Extraction Kit. Analysis of data was done by SPSS V11.5. The prevalent mutations with frequency of 19.2% were J, L, and T haplogroups. Haplotype A was more prevalent in patients with younger age of onset (P-value = 0.012) and high proportion of haplogroup H was associated with optic nerve involvement (P-value = 0.015). No motor symptoms were seen in haplogroup H patients. There is no significant relationship between duration of the disease and EDSS in different mutation of mtDNA.
由于长期以来人们都知道多发性硬化症（MS）与由线粒体（mtDNA）突变引起的Leber遗传性视神经病变（LHON）有关，因此在本研究中，我们评估了mtDNA点突变在MS患者中的可能作用。2006年至2007年期间，52例经修订的McDonald标准确诊并转诊至伊玛目霍梅尼医院伊朗神经研究中心的MS患者进入本研究。本研究调查的变量包括继发性mtDNA突变、年龄、性别、根据扩展残疾状态量表（EDSS）评估的临床残疾、病程以及出现的症状。采用硅藻DNA提取试剂盒进行DNA纯化。数据分析采用SPSS V11.5。频率为19.2%的常见突变是J、L和T单倍群。单倍型A在发病年龄较小的患者中更为普遍（P值=0.012），高比例的单倍群H与视神经受累有关（P值=0.015）。单倍群H的患者未出现运动症状。在mtDNA的不同突变中，病程与EDSS之间无显著关系。
