肌细胞核的结构异常。X连锁型和常染色体显性型Emery-Dreifuss肌营养不良症的超微结构差异。
Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD.
作者信息
Fidziańska Anna, Hausmanowa-Petrusewicz Irena
机构信息
Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, 1a, Banacha Str. bld. D, 02-097 Warsaw, Poland.
出版信息
J Neurol Sci. 2003 Jun 15;210(1-2):47-51. doi: 10.1016/s0022-510x(03)00012-1.
OBJECTIVES
The aim of our study was to compare the ultrastructure of myonuclei in both forms of Emery-Dreifuss dystrophy (EDMD)-X-linked and dominantly autosomally transmitted. The muscle biopsies were taken from rectus femoris in four X-linked EDMD cases and three ADEDMD cases.
METHODS
The biopsies were evaluated using immunocytochemical staining to establish emerin or A/C lamins deficiency. The muscle ultrastructure, especially that of nuclei, was analysed to find out whether there are differences between the two forms of EDMD.
RESULTS
In both forms of EDMD, there was an aberrant nuclear architecture. In the X-linked form, the breakdown of fragile nuclear membrane and presence of nucleoplasm extrusion were a distinct feature. In the AD from, there was chromatin reorganization and loss of nucleoplasm volume.
目的
我们研究的目的是比较两种形式的埃默里 - 德赖富斯肌营养不良症（EDMD）——X连锁型和常染色体显性遗传型——的肌细胞核超微结构。肌肉活检取自4例X连锁型EDMD患者和3例常染色体显性遗传型EDMD（ADEDMD）患者的股直肌。
方法
使用免疫细胞化学染色评估活检样本，以确定emerin或A/C型核纤层蛋白缺乏情况。分析肌肉超微结构，尤其是细胞核的超微结构，以找出两种形式的EDMD之间是否存在差异。
结果
在两种形式的EDMD中，均存在异常的核结构。在X连锁型中，脆弱的核膜破裂和核质挤出是一个明显特征。在常染色体显性遗传型中，存在染色质重组和核质体积减少。
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