LMNA突变介导细胞核结构与功能异常

发布时间：2018-07-05 07:22

本文选题：核纤层蛋白 + LMNA　；参考：《广西师范大学学报(自然科学版)》2017年04期

【摘要】：核膜蛋白综合征是一类主要由细胞核膜结构蛋白(如lamins、SUNs、emerin等)基因突变诱发的包括早衰等一系列疾病的总称,因其多数突变发现于核纤层蛋白基因上,所以又被称为核纤层蛋白综合征,其发病机制目前还不清楚。本文以A型核纤层蛋白基因位点上的致病突变基因C1294T为切入点,研究突变对细胞核结构与功能的影响,以及相关核膜蛋白及染色质定位与功能的影响。研究结果表明,LMNA突变对细胞核膜的结构与功能完整性具有影响作用,可致使细胞核膜异形甚至产生凸起小泡;另外还对细胞核内染色质的定位具有一定抑制作用,使其在细胞核内形成不均匀的分布状态,表明该突变已经影响到细胞核正常的结构与功能,并可能进一步诱发相关疾病。
[Abstract]:Nuclear membrane protein syndrome (NMPS) is a class of diseases, including premature senescence, which is mainly induced by mutations in nuclear membrane structural proteins (such as lamins, SUNsSUNsOemerin, etc.), because most of the mutations are found in nuclear laminin genes. Therefore, it is also known as nuclear laminin syndrome, its pathogenesis is not clear. In this paper, the effect of mutation on nuclear structure and function and the localization and function of nuclear membrane protein and chromatin were studied by using C1294T, a pathogenic mutation gene of A type nuclear laminin gene. The results showed that LMNA mutation had an effect on the structural and functional integrity of the nuclear membrane, leading to the abnormal shape of the nuclear membrane and even the formation of bulging vesicles, and also inhibited the localization of chromatin in the nucleus. It is suggested that the mutation has affected the normal structure and function of the nucleus and may further induce related diseases.
【作者单位】：广西师范大学生命科学学院;广西高校干细胞与医药生物技术重点实验室(广西师范大学);广西师范大学生物医学研究中心;
【基金】：国家自然科学基金(31560319) 广西师范大学大学生创新创业训练计划项目(201510602004,201710602239) 广西“八桂学者资助项目”(2013A003)
【分类号】：R597

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