核纤层蛋白病小鼠模型的研究进展  

Advances in Laminopathy-related mouse models

作　　者：周玲 范润哥 李东明 刘恒 舒伟[1,3] ZHOU Ling;FAN Runge;LI Dongming;LIU Heng;SHU Wei(Basic Medical College of Guangxi Medical University,Nanning 530021;China.2.Department of Dermatology,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021;.3.Biotechnology College of Guilin Medical University,Guilin 541100)

机构地区：[1]广西医科大学基础医学院,南宁530021 [2]广西医科大学第一附属医院皮肤科,南宁530021 [3]桂林医学院生物技术学院,广西桂林541100

出　　处：《中国比较医学杂志》2020年第9期103-110,共8页Chinese Journal of Comparative Medicine

基　　金：国家自然科学基因(31660311);药用资源化学与药物分子工程国家重点实验室开放基金(CMEMR2014-CMEMR2018)。

摘　　要：LMNA基因编码A型核纤层蛋白(lamin),其突变导致一系列复杂多样的遗传病。目前,人们已经发现了900多个LMNA基因突变,这些突变造成多种表型各异的核纤层蛋白病(laminopathies)。如:下颌骨锁骨发育不全(mandibuloacral dysplasia,MAD)、埃-德型肌营养不良(Emery-Dreifuss muscular dystrophy,EDMD)、早老症(Hutchinson-Gilford progeria syndrome,HGPS)等。研究者为了更好的了解核纤层蛋白病的分子机制以及治疗药物筛选,已经构建了一系列LMNA基因突变的小鼠品系,这些小鼠模型为了解核纤层蛋白的功能和及其在个体生长发育中的作用提供了有价值的研究材料。本文就核纤层蛋白病小鼠模型进行综述,并讨论了它们在核纤层蛋白病和生理性衰老中的意义。Variations in the LMNA gene,which encodes lamin A,cause a wide range of genetic disorders.More than 900 LMNA variations have been found,which cause a variety of laminopathies with different phenotypes,such as mandibuloacral dysplasia,Emery-Dreifuss muscular dystrophy and Hutchinson-Gilford progeria syndrome.To better understand these laminopathies and to screen for therapeutic drugs,a series of mouse strains with LMNA variations have been established.These mouse models provide valuable tools for understanding LMNA function and its role in growth and development.Here,we review mouse models of laminopathies and we discuss their significance in progeria and physiological aging.

关 键 词：衰老 法尼基化 核纤层蛋白 核纤层蛋白病 早老蛋白 

分 类 号：R-33[医药卫生]