核膜结构动态变化及核膜相关病征

发布时间：2018-01-04 00:21

本文关键词：核膜结构动态变化及核膜相关病征　出处：《中国细胞生物学学报》2013年09期 　论文类型：期刊论文

【摘要】：真核生物的细胞核膜主要由外层核膜、核孔复合体、内层核膜及其下面的核纤层组成。越来越多的证据表明,细胞核膜结构的变化与核膜相关疾病的发生发展有着极为密切的关系。已鉴定出的核膜病征多与核膜蛋白突变或缺失有关,目前导致疾病种类最多且突变研究相对最全面的是核纤层蛋白lamin A,即核纤层的骨架组分之一。核膜相关疾病的几种主要类型是:以多器官加速衰老为症状的人类早老综合征(Hutchinson-Gilford progeria syndrome,HGPS),导致全身性严重早老的限制性皮肤病(restrictive dermopathy,RD),具有肌肉组织特异性的肌肉营养不良症(Emery-Dreifuss muscular dystrophy,EDMD)、扩张性心肌病(dilated cardiomyopathy,DCM),具有脂肪组织特异性的家族性脂营养不良症(dunnigan familial partial lipodystrophy,FPLD),同时具有骨组织与脂肪组织特异性的下颌骨端发育不良脂肪代谢异常症(mandibuloacral dysplasia,MAD)。这些疾病已逐渐引起人们的广泛关注。该文主要总结核膜结构变化并简述核膜相关病征的症状与分子机制。
[Abstract]:The eukaryotic cell membrane is mainly composed of outer nuclear membrane, nuclear pore complex, nuclear lamina inner nuclear membrane and below. More and more evidence that the occurrence and development of diseases related to nuclear membrane changes and cell membrane structure has a very close relationship. The identified nuclear symptoms associated with mutations or nuclear membrane protein at present, most species lack, cause disease and the mutation is relatively the most comprehensive study of lamin lamin A, namely the skeleton of the nuclear lamina of several major types of nuclear related diseases are: multiple organ senescence accelerated symptoms of human progeroid syndrome (Hutchinson-Gilford progeria, syndrome, HGPS), leading to systemic severe Alzheimer restrictive skin disease (restrictive dermopathy, RD), with muscle specific muscle dystrophy (Emery-Dreifuss muscular, dystrophy, EDMD, dilated cardiomyopathy (d) Ilated cardiomyopathy, DCM), with adipose tissue specific familial lipid dystrophy (Dunnigan familial partial lipodystrophy, FPLD), at the same time with bone tissue and adipose tissue specificity of mandibular end dysplasia abnormal fat metabolism disorder (mandibuloacral dysplasia, MAD). These diseases have gradually attracted people's attention in this paper. The main symptoms and summarize the molecular mechanism of membrane structure and the change of nuclear related symptoms.

【作者单位】：北京大学生命科学学院;
【基金】：国家重点基础研究发展计划(973)项目(批准号:2010CB833705)资助的课题~~
【分类号】：R346
【正文快照】： 在高等真核生物中,细胞核膜(nuclear envelope)不仅维持着细胞核的完整性以及基因组的稳定性,同时还使得基因的复制、转录和翻译分布在不同的区域中。广义的细胞核膜主要由外层核膜(outer nuclear membrane)、内层核膜(inner nuclearmembrane)、核孔复合体(nuclear pore compl

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