中文摘要：

在往来帐户基因( LMNA )可以引起家庭扩大心肌症(扩大心肌症)的 lamin 的背景变化由于室的心律不齐在扩大心肌症的表明和突然的死亡的高风险前由早发作描绘了心房与心室的块( A-V 块)，它很类似于差距连接的显型相关的心疾病。这研究试图在新生的 myocytes transfected 决定 connexins 的表示和本地化与野类型(WT ) 或阐明的变异的 LMNA 这些变化怎么引起心疾病。我们学习了 connexin 的方法 43 ( Cx43 )并且 connexin 40 ( Cx40 )在有教养的新生的 myocytes transfected 与的表示野类型( WT )或变异的 LMNA ( Glu82Lys ( E82K )和用共焦的成像和西方的弄污 analysis.Results Cx43 蛋白质表示的 Arg644Cys ( R644C )被40%在房间 transfected 减少与 LMNA E82K 比那在有 WT LMNA cDNA 的房间 transfected 。共焦的成像证明 Cx43 在内由 LMNA E82K 定位了房间。由对比， LMNA E82K 变化没在 Cx40 的表示和本地化上有效果。LMNA R644C transfection 没在 all.Conclusions 在差距连接上显示出任何重要效果我们的调查结果建议 LMNA E82K 显著地减少了 Cx43 表示并且改变了它可以是病理学的机制之一的本地化内在的 LMNA 相关的心疾病。

英文摘要：

Background Mutations in the lamin A/C gene （LMNA） may cause familial dilated cardiomyopathy （dilated cardiomyopathy） characterized by early onset atrio-ventricular block （A-V block） before the manifestation of dilated cardiomyopathy and high risk of sudden death due to ventricular arrhythmia, which is very similar to the phenotype of gap junction related heart disease. This study aimed to determine the expression and localization of connexins in neonatal myocytes transfected with wild-type （WT） or mutant LMNA to elucidate how these mutations cause heart diseases. Methods We studied the connexin 43 （Cx43） and connexin 40 （Cx40） expression in cultured neonatal myocytes transfected with wild-type （WT） or mutant LMNA （Glu82Lys （E82K） and Arg644Cys （R644C）） using confocal imaging and Western blotting analysis. Results Cx43 protein expression was reduced by 40% in cells transfected with LMNA E82K than that in cells transfected with WT LMNA cDNA. Confocal imaging showed that the Cx43 located inside the cells by LMNA E82K. By contrast, LMNA E82K mutation had no effect on expression and localization of Cx40. LMNA R644C transfection did not show any significant effects on gap junctions at all. Conclusions Our findings suggest that LMNA E82K significantly reduced the Cx43 expression and altered its localization which may be one of the pathological mechanisms underlying LMNA-related heart disease.