E82K新突变对Lamin A与Emerin蛋白结合能力的影响  

The capability that the Lamin A protein binds to Emerin protein not be affected by the E82K new mutation

作　　者：王虎[1] 郑维越[1] 邹玉宝[1] 甄一松[1] 宋雷[1] 张芊[1] 惠汝太 

机构地区：[1]中国医学科学院中国协和医科大学阜外心血管病医院分子医学中心,北京100037

出　　处：《中国分子心脏病学杂志》2004年第2期79-83,共5页Molecular Cardiology of China

摘　　要：目的 :研究LaminAE82K突变型蛋白与Emerin蛋白结合能力的减弱是否会导致家族性扩张型心肌病。方法 :构建Emerin基因野生型和LaminA基因野生型和E82K突变型表达载体 ,将Emerin基因表达载体分别与LaminA基因野生型及突变型表达载体共转染HEK2 93细胞 ,免疫共沉淀的方法检测野生型和突变型LaminA蛋白与Emerin蛋白的结合力的差异。结果 :LaminA野生型和E82K突变型蛋白与Emerin蛋白的结合能力不存在明显差异。结论Objective To investigate whether the weakness of capability that Emerin protein binds to the E82K mutated type Lamin A protein can cause the familiar dilated cardiomyopathy. Methods Constructing the Emerin gene and the Lamin A gene wild and E82K mutated type expression vectors. Transfecting both Emerin gene and the Lamin A gene wild or mutated type expression vector each into HEK293 cells. Detecting the difference of capability that Emerin protein binds between to the wild type Lamin A protein and to the E82K mutated type Lamin A protein with co-immunoprecipation and Western-blot. Results There is no difference in capability that Emerin protein binds between to the wild type Lamin A protein and to the E82K mutated type Lamin A protein. Condusions The familiar dilated cardiomyopathy caused by l.amin A E82K mutant protein is no immediate ralationship to Emerin protein.

关 键 词：家族性扩张型心肌病 LAMIN A EMERIN 基因突变 

分 类 号：R542.2[医药卫生—心血管疾病]