CAJ | 학술논문

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.
중간사상관단백시피부병장중적일충중요적결구단백,대외계각충유해물질적입침기도방어작용.중간사상관단백상관기인돌변혹선천성결함,장도치저사단백질적이상표체,종이도치일계렬이피부병장공능손상위특정적피부병발생.연구발현,중간사상관단백기인돌변여특응성피염이급심상성어린병발병유명현적상관성;중간사상관단백기인무의돌변가능회강저얼접촉성피염적발병년령화증가대얼적민감성;중간사상관단백기인돌변가능여반독、선천성후갑종합정유관.총지,중간사상관단백기인돌변여다충피부질병적발생유관련성,단목전중간사상관단백기인돌변시부위모일피부병적특정성치병인자잉수진일보연구.
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.