Seipin与先天性全身脂肪营养不良  

Seipin and congenital generalized lipodystrophy

作　　者：刘国庆[1] 崔鑫[1] 谢元[1] 

机构地区：[1]北京大学医学部心血管研究所、教育部分子心血管学重点实验室,北京100191

出　　处：《重庆医科大学学报》2013年第1期1-4,共4页Journal of Chongqing Medical University

摘　　要：人类Seipin基因又称BSCL2,定位于染色体11q13,由Magre等在2001年通过定位克隆的方法从9个先天性全身脂肪营养不良(congenital generalized lpodystrophy,CGL)的家系中筛选出来。它编码的内质网固有蛋白Seipin在脂肪组织、神经系统中高表达。Seipin基因的无效突变与Ⅱ型CGL密切相关,该患者缺失几乎全部的脂肪组织是最严重的一类脂肪营养不良。本文综述了Seipin基因的结构与分布以及该基因缺陷时引起的Ⅱ型CGL的特点和临床表现。并从脂肪细胞分化和脂滴形态两方面探讨了Seipin在Ⅱ型CGL发病机制中的作用。In 2001,a locus for congenital generalized lipodystrophy（CGL）was identified on chromosome 11q13 by positional cloning,and mutations in a novel gene were named Seipin.Human Seipin is an ER-resident protein.Expressions of seipin protein can be detected in adipose tissues and motor neurons.Seipin gene was originally identified as a loss-of-function gene for CGL type Ⅱ,a condition characterized by severe lipodystrophy of both metabolically active and mechanical adipocytes.This paper reviewed the structure and distribution of Seipin gene as well as the features and clinical manifestations of CGL genetically defective Seipin gene.Meanwhile,it disscussed the role of Seipin gene in the pathogenesis of CGL type Ⅱ from the aspects of morphology and differentiation of lipid droplets.

关 键 词：Seipin(BSCL2) 先天性全身性脂肪营养不良 脂肪分化 脂滴形成 脂滴形态 

分 类 号：R363.25[医药卫生—病理学]