%0 Journal Article
%T Leber''s hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation<br>线粒体ND1基因T3866C突变可能是Leber’s遗传性视神经病和四肢畸形跛行相关的突变
%A LIU Yan
%A ZHUANG Shu-Liu
%A TONG Yi
%A QU Jia
%A ZHOU Xiang-Tian
%A ZHAO Fu-Xin
%A ZHANG Juan-Juan
%A ZHANG Yong-Mei
%A ZHANG Yu
%A GUAN Min-Xin
%A Zhejiang Provincial Key Laboratory of Medical Genetics
%A School of Life Sciences
%A Wenzhou Medical College
%A Wenzhou
%A China
%A School of Ophthalmology
%A Optometry
%A Wenzhou
%A Fuzhou Southeastern Eye Hospital
%A Fuzhou
%A The First Affiliated Hospital
%A Fujian Medical University
%A Fuzhou
%A Ch
%A <br>刘燕
%A 庄淑流
%A 童绎
%A 瞿佳
%A 周翔天
%A 赵福新
%A 张娟娟
%A 张永梅
%A 章豫
%A 管敏鑫
%J 遗传
%D 2010
%I 
%X Mutations in mitochondrial DNA have been associated with a wide spectrum of clinical abnormalities. We reported here the clinical, genetic and molecular characterization of a five-generation Han Chinese pedigree with Leber’s Hereditary Optic Neuropathy (LHON) and limbs abnormity claudication. Of 27 matrilineal relatives, four exhibited only LHON, one suffered from only limbs abnormity claudication, and four had both LHON and limbs abnormity claudication. Sequence analysis of mitochondrial genome in this family identified the known T3866C mutation in ND1 gene and other 43 variants belonging to the Asian haplogroup D4a3. The T3866C (I187T) mutation resulted in the replacement of isoleucine at position 187 with theronine. The isoleucine at position 187 located at one of transmembrane domain in ND1 polypeptide. The isoleucine at position 187 was extremely conserved among 29 organisms, while other variants showed no evolutionarily conservation. Furthermore, the T3866C was absence in 135 Chinese control subjects. The T3866C mutation likely alters the complex I activity, which causes mitochondrial dysfunction associated with LHON and limbs abnormity claudication. Therefore, the T3866C mutation is likely associated with LHON and limbs abnormity claudication.
%K Leher's hereditary optic neuropathy
%K mitochondrial DNA
%K mutation
%K vision loss
%K limbs abnormity claudication<br>Leber's遗传性视神经病变
%K 线粒体DNA
%K 突变
%K 视力障碍
%K 四肢畸形跛行
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=7A0E6DACB2F785303A6B7CD561799EA6&yid=140ECF96957D60B2&vid=9971A5E270697F23&iid=0B39A22176CE99FB&sid=A8DE7703CC9E390F&eid=2922B27A3177030F&journal_id=0253-9772&journal_name=遗传&referenced_num=1&reference_num=18