Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD
Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD
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DOI：
10.1016/s0022-510x(03)00012-1
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发表时间：
2003-06-15
影响因子：
4.4
通讯作者：
Hausmanowa-Petrusewicz, I
中科院分区：
文献类型：
--
作者：
Fidzianska, A;Hausmanowa-Petrusewicz, I
目的：比较X连锁和常染色体显性遗传的Emery-Dreifuss营养不良症(EDMD)和常染色体显性遗传的两种类型的肌核超微结构。4例X连锁EDMD病例和3例ADEDMD病例取自股直肌的肌肉活检。方法：采用免疫细胞化学方法对活检标本进行评估，以确定Emerin或A/C层粘连蛋白缺陷。分析肌肉的超微结构，特别是细胞核的超微结构，以了解两种形式的EDMD是否存在差异。结果：在两种类型的EDMD中，均存在异常的核结构。在X连锁类型中，脆性核膜破裂和核浆脱出是一个明显的特征。AD组核染色质重组，核质体积减少。(C)2003 Elsevier Science B.V.保留所有权利。
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. (C) 2003 Elsevier Science B.V. All rights reserved.