Roux Kyle J, Burke Brian
Department of Anatomy and Cell Biology, The University of Florida College of Medicine, 1600 SW Archer Road, Gainesville, FL 32606, USA.
Biochim Biophys Acta. 2007 Feb;1772(2):118-27. doi: 10.1016/j.bbadis.2006.06.001. Epub 2006 Jun 7.
Muscular dystrophies are a heterogeneous group of disorders linked to defects in 20-30 different genes. Mutations in the genes encoding a pair of nuclear envelope proteins, emerin and lamin A/C, have been shown to cause the X-linked and autosomal forms respectively of Emery-Dreifuss muscular dystrophy. A third form of muscular dystrophy, limb girdle muscular dystrophy 1b, has also been linked to mutations in the lamin A/C gene. Given that these two genes are ubiquitously expressed, a major goal is to determine how they can be associated with tissue specific diseases. Recent results suggest that lamin A/C and emerin contribute to the maintenance of nuclear envelope structure and at the same time may modulate the expression patterns of certain mechanosensitive and stress induced genes. Both emerin and lamin A/C may play an important role in the response of cells to mechanical stress and in this way may help to maintain muscle cell integrity.
肌肉萎缩症是一组异质性疾病，与20 - 30种不同基因的缺陷有关。编码一对核膜蛋白emerin和核纤层蛋白A/C的基因突变已被证明分别导致埃默里 - 德赖富斯肌营养不良症的X连锁和常染色体形式。第三种肌肉萎缩症形式，即肢带型肌营养不良症1b，也与核纤层蛋白A/C基因的突变有关。鉴于这两个基因在全身广泛表达，一个主要目标是确定它们如何与组织特异性疾病相关联。最近的研究结果表明，核纤层蛋白A/C和emerin有助于维持核膜结构，同时可能调节某些机械敏感和应激诱导基因的表达模式。emerin和核纤层蛋白A/C在细胞对机械应激的反应中可能都起着重要作用，并且可能以此方式有助于维持肌肉细胞的完整性。
