Diseases of the Nuclear Envelope
Diseases of the Nuclear Envelope
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DOI：
10.1101/cshperspect.a000760
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发表时间：
2010-02-01
影响因子：
7.2
通讯作者：
Wang, Yuexia
中科院分区：
文献类型：
--
作者：
Worman, Howard J.;Ostlund, Cecilia;Wang, Yuexia
在过去的十年中，广泛的迷人的单基因疾病已经与LMNA基因的突变有关，LMNA基因编码A型核纤层蛋白，核膜的中间丝蛋白。这些疾病包括扩张型心肌病伴可变性肌营养不良、Dunnigan型家族性部分脂肪营养不良、Charcot-Marie-Tooth 2型疾病、下颌骨肢端发育不良和Hutchinson-Gilford早衰综合征。几种疾病也是由编码B型核纤层蛋白和与核纤层相关的蛋白质的基因突变引起的。对这些所谓的核纤层蛋白病或核纤层病的研究，其中一些是人类常见疾病的表型，提供了有关核被膜功能的线索，并深入了解疾病的发病机制和人类衰老。
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.