nesprins与某些人类疾病研究进展

Development of the relationship of nesprins with some human disease

nesprins是新发现的-组核膜蛋白，有nesprin-1、nesprin-2、nesprin-3和nesprin-4四种表型，在保持细胞核的形态与细胞器的迁移中起重要作用。其与emerin及laminA／C相连，共同定位于核膜上。在各种组织中广泛表达，尤其在心肌、骨骼肌、平滑肌及神经系统中高度表达，提示其在这些组织中可能具有重要作用，并可能与这些组织疾病发生有关，如Emery—Dreifuss肌营养不良综合征、Meckel—Gruber综合征等。

nesprins are a lately discovered family of ubiquitously expressed nuclear envelop proteins. By now, four genes have been identified, which are nesprin-1, nesprin-2, nesprin-3, nesprin-4. They are thought to regulate nuclear anchorage and organeUe migration, and are also localized at the inner nuclear membrane, where they bind with laminA/C and emerin. They are expressing in a variety of tissues, especially in cardiac muscle, skeletal muscle, smooth muscle and nerve system. Additionally, they may contribute to a broad range of human disease syndromes, such as Emery-Dreifuss muscular dystrophy, Meckel-Gruber syndrome. This review summarizes the relationship of nesprins with some diseases.