Méndez-López Iván, Worman Howard J
Departments of Medicine and of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Chromosoma. 2012 Apr;121(2):153-67. doi: 10.1007/s00412-012-0360-2. Epub 2012 Feb 4.
In the past decade, the inner nuclear membrane has become a focus of research on inherited diseases. A heterogeneous group of genetic disorders known as laminopathies have been described that result from mutations in genes encoding nuclear lamins, intermediate filament proteins associated with the inner nuclear membrane. Mutations in genes encoding integral inner nuclear membrane proteins, many of which bind to nuclear lamins, also cause diseases that sometimes are very similar to those caused by lamin gene mutations. The pathogenic mechanisms that underlie these diseases, which often selectively affect different tissues or organ systems despite the near-ubiquitous expression of the proteins, are only beginning to be elucidated. The unfolding story of the laminopathies provides a remarkable example of how research in basic cell biology has impacted upon medicine and human health.
在过去十年中，内核膜已成为遗传性疾病研究的一个焦点。已经描述了一组异质性的遗传疾病，称为核纤层蛋白病，它们是由编码核纤层蛋白的基因突变引起的，核纤层蛋白是与内核膜相关的中间丝蛋白。编码内核膜整合蛋白的基因突变也会导致疾病，其中许多整合蛋白与核纤层蛋白结合，这些疾病有时与核纤层蛋白基因突变引起的疾病非常相似。尽管这些蛋白质几乎在所有组织中都有表达，但这些疾病所基于的致病机制往往会选择性地影响不同的组织或器官系统，目前才刚刚开始阐明。核纤层蛋白病不断发展的故事为基础细胞生物学研究如何影响医学和人类健康提供了一个显著的例子。
