Leber遗传性视神经病的线粒体基因突变及临床特征  

Determination of mtDNA mutations and clinical features in patients with optic neuropathy

作　　者：赖春涛[1] 杨凌[2] 尚军[2] 张晓君[1] 王景群[3] 王薇[1] 秦朝晖[1] 王虔[1] 孙林[1] 余华峰[1] 

机构地区：[1]首都医科大学附属北京同仁医院神经内科,北京100730 [2]首都医科大学附属北京同仁医院中心实验室,北京100730 [3]吉林省白山市中心医院

出　　处：《中国神经精神疾病杂志》2005年第1期8-10,i006,共4页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的　了解Leber遗传性视神经病 (LHON)线粒体基因突变及其临床特征。方法　采用PCR法扩增96例视神经病变患者mtDNA中ND1、ND4、ND6上的 3个片段后 ,用 377测序仪对mtDNA上 11778、346 0、14 4 84位点进行序列分析确定有无碱基突变。结果　 96例患者中 4 0例 (41 7% )线粒体基因突变 ,其中男性 34例 (85 % ) ,女性 6例 (15 % ) ;34例 (85 % )为 11778位点突变 ,2例 (5 % ) 346 0位点突变 ,4例 (10 % ) 14 4 84位点突变 ;346 0及 14 4 84突变均为散发病例 ;有家族史者突变表达占 87 0 % (2 0 /2 3) ,无家族史者突变占 2 7 4 % (2 0 /73) ;头颅MR显示 11778突变者中 3例有脑白质区病灶 ,1例LHON合并垂体瘤 ;12例突变阳性者检查脑脊液 ,11例有炎性脱髓鞘改变。结论　LHON以 11778突变常见 ;起病及病程多样化、散发病例比例较高、眼底微血管病改变不易发现、脑脊液改变与炎性脱髓鞘雷同导致LHON在临床上易漏诊误诊 ,应尽早行突变检测明确诊断。Objective To evaluate mtDNA mutations and clinical features of the patients with optic neuropathy. Methods Three fragments of mtDNA including 11778, 3460 and 14484 points in 96 patients with optic neuropathy were amplified with PCR, and then were sequenced with the 377 sequencer. Results mtDNA mutations were identified in 40 of 96 patients with opticneuropathy, including 11778 mutations in 34 patients(85%),3460 mutations in 2 patients(5%) and 14484 mutations in 4 patients(10%). The patients with 3460 mutations and 14484 mutations were sporadic. The mtDNA mutations were determined to had developed in 20 patients of 23 patients (87 0%) with familial history, and in 20 of 73 patients(27 4%) without familial history. Brain MR showed white matte abnormality in 3 patients, without clinical findings. Pituitary adenoma in 1 patient with 11778 mutations. 11 of 12 patients who had cerebrospinal fluid examination revealed inflammatory demyelinating changes. Conclusions 11778 mutations is most common mtDNA mutations in Chinese patients with LHON. Since the patients with LHON have different clinical features and some of them are similar to inflammatory demyelinating disease, gene determination is helpful for the diagnosis.

关 键 词：LEBER遗传性视神经病 线粒体DNA 突变 

分 类 号：R774.6[医药卫生—眼科]