Niebroj-Dobosz I, Fidzianska A, Hausmanowa-Petrusewicz I
Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Department of Neurology, Medical University, Warsaw, Poland.
Acta Myol. 2003 Sep;22(2):52-7.
Emerin and lamins are nuclear proteins, which are missing or defective in Emery-Dreifuss muscular dystrophy (EDMD). The aim of this study was to test the expression of these proteins in skeletal muscles in the X-linked (X-EDMD) and autosomal dominant (AD-EDMD) form. The study group consisted of 11 patients with X-EDMD, 11 patients of the AD-EDMD and 20 age-matched normal subjects. Expression of emerin and lamins in muscles were analyzed by Western blotting and the immunocytochemical technique. Using the Western blotting procedure emerin was detected in traces in the X-linked form. In the majority of these cases (6/11) it was connected with a decreased concentration of lamin A, in four patients a lowered concentration of lamin C was present. Lamin B2 was either normal (8/11), or decreased (3/11). Deficit of lamin A was a characteristic feature for AD-EDMD in the majority of these cases (9/11), while in two of these patients a decrease of lamin C, in four cases a lowered level of emerin was also present. In one AD-EDMD patient of a decrease of lamin C, but normal lamin A was present. Following the immunocytochemical examination the decrease of lamin A/C in X-EDMD and of emerin in AD-EDMD was also observed. The above mentioned data demonstrated that in X-EDMD and AD-EDMD the deficit of the appropriate proteins is not restricted either to emerin or lamins. The defect is more widespread and results in disruption of several nuclear proteins. This study also indicated that for the diagnostic EDMD purposes the immunocytochemical detection of emerin/lamins has to be accomplished by quantitative immunochemical analyses of the above mentioned proteins.
Emerin和核纤层蛋白是核蛋白，在埃默里-德赖富斯肌营养不良症（EDMD）中缺失或有缺陷。本研究的目的是检测这些蛋白在X连锁型（X-EDMD）和常染色体显性遗传型（AD-EDMD）骨骼肌中的表达。研究组包括11例X-EDMD患者、11例AD-EDMD患者和20名年龄匹配的正常受试者。通过蛋白质免疫印迹法和免疫细胞化学技术分析肌肉中Emerin和核纤层蛋白的表达。采用蛋白质免疫印迹法，在X连锁型中仅检测到微量的Emerin。在这些病例中的大多数（6/11），它与核纤层蛋白A浓度降低有关，4例患者核纤层蛋白C浓度降低。核纤层蛋白B2要么正常（8/11），要么降低（3/11）。在这些病例中的大多数（9/11），核纤层蛋白A缺乏是AD-EDMD的特征，而其中2例患者核纤层蛋白C降低，4例患者Emerin水平也降低。1例AD-EDMD患者核纤层蛋白C降低，但核纤层蛋白A正常。免疫细胞化学检查后，也观察到X-EDMD中核纤层蛋白A/C降低以及AD-EDMD中Emerin降低。上述数据表明，在X-EDMD和AD-EDMD中，相应蛋白的缺乏并不局限于Emerin或核纤层蛋白。缺陷更为广泛，导致几种核蛋白的破坏。本研究还表明，为了诊断EDMD，Emerin/核纤层蛋白的免疫细胞化学检测必须通过对上述蛋白的定量免疫化学分析来完成。
