Maraldi N M, Mazzotti G, Rana R, Antonucci A, Di Primio R, Guidotti L
Department of Scienze Anatomiche Umane e Fisiopatologia Apparato Locomotore, University of Bologna, Italy.
Eur J Histochem. 2007;51 Suppl 1:117-24.
Here we present an overview of the experimental evidence and of the conceptual basis for the involvement of lamins and nuclear envelope proteins in a group of genetic diseases collectively referred to as laminopathies. Some of these diseases affect a specific tissue (skeletal and/or cardiac muscles, subcutaneous fat, peripheral nerves), while others affect a variety of tissues; this suggests that the pathogenic mechanism of laminopathies could reside in the alteration of basic mechanisms affecting gene expression. On the other hand, a common feature of cells from laminopathic patients is represented by nuclear shape alterations and heterochromatin rearrangements. The definition of the role of lamins in the fine regulation of heterochromatin organization may help understanding not only the pathogenic mechanism of laminopathies but also the molecular basis of cell differentiation and ageng.
在此，我们概述了核纤层蛋白和核膜蛋白参与一类统称为核纤层蛋白病的遗传疾病的实验证据和概念基础。其中一些疾病影响特定组织（骨骼肌和/或心肌、皮下脂肪、外周神经），而另一些则影响多种组织；这表明核纤层蛋白病的致病机制可能在于影响基因表达的基本机制的改变。另一方面，核纤层蛋白病患者细胞的一个共同特征是核形状改变和异染色质重排。确定核纤层蛋白在异染色质组织精细调节中的作用，不仅有助于理解核纤层蛋白病的致病机制，还能帮助理解细胞分化和衰老的分子基础。
