Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Cold Spring Harb Perspect Biol. 2010 Feb;2(2):a000760. doi: 10.1101/cshperspect.a000760.
In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome. Several diseases are also caused by mutations in genes encoding B-type lamins and proteins that associate with the nuclear lamina. Studies of these so-called laminopathies or nuclear envelopathies, some of which phenocopy common human disorders, are providing clues about functions of the nuclear envelope and insights into disease pathogenesis and human aging.
在过去的十年中，大量令人着迷的单基因疾病已被发现与编码核纤层蛋白 A 型的 LMNA 基因突变有关，核纤层蛋白 A 是核膜的中间丝蛋白。这些疾病包括扩张型心肌病伴不同程度的肌肉营养不良、Dunnigan 型家族性部分脂肪营养不良、Charcot-Marie-Tooth 型 2 型疾病、下颌面骨发育不良和 Hutchinson-Gilford 早老综合征。几种疾病也是由编码核纤层蛋白 B 型和与核纤层蛋白相关的蛋白的基因突变引起的。对这些所谓的核纤层病或核包膜病的研究，其中一些与常见的人类疾病表型相似，为核包膜的功能以及疾病发病机制和人类衰老提供了线索。
