中间丝相关基因突变与皮肤病关联性的研究进展  

Relationship between filaggrin and dermatoses： an update

作　　者：程芳[1] 肖风丽[1] 

机构地区：[1]安徽医科大学皮肤病研究所,安徽医科大学第一附属医院皮肤性病科,合肥230032

出　　处：《国际皮肤性病学杂志》2012年第5期320-322,共3页International Journal of Dermatology and Venereology

基　　金：国家自然科学基金（81071284,81172838）

摘　　要：中间丝相关蛋白是皮肤屏障中的一种重要的结构蛋白，对外界各种有害物质的入侵起到防御作用。中间丝相关蛋白相关基因突变或先天性缺陷，将导致这些蛋白质的异常表达，从而导致一系列以皮肤屏障功能损伤为特征的皮肤病发生。研究发现，中间丝相关蛋白基因突变与特应性皮炎以及寻常性鱼鳞病发病有明显的相关性；中间丝相关蛋白基因无义突变可能会降低镍接触性皮炎的发病年龄和增加对镍的敏感性；中间丝相关蛋白基因突变可能与斑秃、先天性厚甲综合征有关。总之，中间丝相关蛋白基因突变与多种皮肤疾病的发生有关联性，但目前中间丝相关蛋白基因突变是否为某一皮肤病的特征性致病因子仍需进一步研究。Filaggrin （FLG） is an essential structural protein in skin barrier, which provides protection against various environmental harmful substances. Mutations or congenital defect of FLG-related genes will affect the protein expression of FLG, and result in a series of dermatoses characterized by skin barrier dysfunction. It has been demonstrated that FLG-related gene mutations are evidently associated with the development of atopic dermatitis and ichthyosis vulgaris, and possibly associated with alopecia areata and pachyonychia congenita syndrome, and null mutations of FLG-related genes may lower the age at onset of nickel dermatitis and increase nickel sensitivity. In short, FLG mutations may be associated with the development of many skin diseases, but more research is needed to determine whether FLG mutations are a specific pathogenetic factor for some skin disorders.

关 键 词：中间丝蛋白质类 突变 皮肤疾病 

分 类 号：R751[医药卫生—皮肤病学与性病学]