Méndez-López Iván
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Med Clin (Barc). 2012 Mar 3;138(5):208-14. doi: 10.1016/j.medcli.2011.03.032. Epub 2011 May 31.
Laminopathies are a group of diseases that share wrong codification of lamins, building proteins of the nuclear lamina. Different tissues are affected in those disorders: striated muscle, adipose tissue, central or peripheral nervous system and aging process. Emery-Dreifuss muscular dystrophy and Hutchinson-Gildford Progery Syndrome are two examples of laminopathies. Other diseases, due to mutations in different genes, impair lamins function by a direct or an indirect way and they are frequently considered together. The last decade has seen an increasing interest and scientific advances on laminopathies that will allow us to answer key questions regarding metabolism, insulin resistance, sudden death and aging. Laminopathies are reviewed in this article from a molecular, pathogenic and clinical point of view.
核纤层蛋白病是一组因核纤层蛋白（构成核纤层的蛋白质）编码错误而引发的疾病。这些疾病会影响不同组织：横纹肌、脂肪组织、中枢或外周神经系统以及衰老过程。埃默里 - 德雷福斯肌营养不良症和哈钦森 - 吉尔福德早衰综合征就是核纤层蛋白病的两个例子。其他因不同基因突变导致的疾病，会直接或间接损害核纤层蛋白的功能，它们常被一并考虑。在过去十年中，人们对核纤层蛋白病的兴趣日益浓厚，且在该领域取得了科学进展，这将使我们能够回答有关代谢、胰岛素抵抗、猝死和衰老的关键问题。本文将从分子、致病机制和临床角度对核纤层蛋白病进行综述。
