线粒体脑肌病伴高乳酸血症和卒中样发作患者头皮不同区域毛囊m.3243A>G突变率分析  

The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS

作　　者：鹿媛媛 赵旭彤 王青青 张晓[1] 袁云[1] 王朝霞[1] LU Yuan-yuan;ZHAO Xu-tong;WANG Qing-qing;ZHANG Xiao;YUAN Yun;WANG Zhao-xia(Department of Neurology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院神经内科,100034

出　　处：《中国现代神经疾病杂志》2018年第8期577-581,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：科技部"重大新药创制"重大专项项目(项目编号:2011ZX09307-001-07);北京市科学技术委员会基金资助项目(项目编号:Z151100003915126)~~

摘　　要：目的比较线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)患者头皮不同区域毛囊线粒体DNA(mt DNA)突变率的差异,并探讨其与脑卒中样发作累及皮质病灶的关系。方法采集7例MELAS患者8个头皮区域(双侧额叶、颞叶、顶叶、枕叶)毛囊DNA,聚合酶链反应-限制性片段长度多态性检测m.3243A>G突变率。结果 7例患者8个头皮区域毛囊m.3243A>G突变率为(60.57±7.71)%,左侧额叶、右侧额叶、左侧颞叶、右侧颞叶、左侧顶叶、右侧顶叶、左侧枕叶、右侧枕叶分别为(61.30±7.32)%、(65.41±5.85)%、(59.80±5.58)%、(57.59±14.47)%、(62.46±5.02)%、(60.11±7.11)%、(59.70±8.68)%、(59.42±6.28)%,各区域差异无统计学意义(F=0.537,P=0.802)。脑卒中样发作病灶对应头皮区域与非病灶对应头皮区域毛囊m.3243A>G突变率差异亦无统计学意义[(60.33±8.70)%对(61.02±6.52)%;t=0.319,P=0.751]。结论头皮毛囊是方便易取、无创性组织标本,可用于mt DNA突变检测。MELAS患者不同头皮区域毛囊mt DNA突变率无差异,脑卒中样发作病灶对应头皮区域与非病灶对应头皮区域毛囊mt DNA突变率亦无差异。Objective To investigate the mitochondrial DNA （mtDNA） mutation load in hair follicles from different scalp regions of patients with mitochondrial, encephalomyopathy with lactic acidosis and stroke-like episodes （MELAS）, compare the mutation load in different scalp regions, and analyze the difference in mutation load between scalp regions with lesion site in the brain and scalp regions without lesion site in the brain. Methods Seven MELAS patients with m.3243A 〉 G mutations were studied. Hair follicles were obtained from 8 scalp regions （bilateral frontal, temporal, parietal and occipital lobes） of all patients and DNA was extracted. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was performed to detect the m.3243A 〉 G mutation. Results The mean value of m.3243A 〉 G mutation load in hair follicles from all patients was （60.57 ± 7.71）%. In different scalp regions, the mean mutation load was （61.30 ± 7.32）% in left frontal, （65.41 ± 5.85）% in right frontal, （59.80 ± 5.58）% in left temporal, （57.59 ± 14.47）% in right temporal, （62.46 ± 5.02）% in left parietal, （60.11 ± 7.11）% in right parietal, （59.70 ± 8.68）% in left occipital and （59.42 ± 6.28）% in right occipital regions, respectively. There was no significant difference in the m.3243A 〉 G mutation load among different scalp regions （F = 0.537, P = 0.802）. There was no significant difference in the mutation load between scalp regions corresponding lesion site of the brain and scalp regions incorresponding lesion site of the brain [（60.33 ± 8.70）% vs. （61.02 ± 6.52）%; t = 0.319, P = 0.751）]. Conclusions Hair follicles are convenient and noninvasive sampled tissue for detecting mtDNA mutations. There is no difference in the mutation load among different scalp regions. Furthermore, there is no difference between scalp regions corresponding lesion site of the brain and scalp regions incorresponding lesion site of the brain.

关 键 词：MELAS综合征 毛囊 DNA 线粒体 突变 

分 类 号：R743.3[医药卫生—神经病学与精神病学] R746[医药卫生—临床医学]