丝聚蛋白与相关皮肤病发病机制的研究进展

Filaggrin and pathogenesis of related skin diseases

丝聚蛋白通过参与角质形成细胞的终末角化过程，在表皮屏障中发挥重要作用。中间丝聚合蛋白基因突变弓l起蛋白表达下降，导致多种过敏性疾病。丝聚蛋白基因突变导致特应性皮炎，也是欧洲和亚洲人种寻常型鱼鳞病的主要诱发因素。丝聚蛋白基因与特应性皮炎发病的婴儿期或早期儿童期关系密切，而与晚期儿童期和成人期无关。有研究发现，小鼠体内缺氧诱导因子引起丝聚蛋白表达降低，提示丝聚蛋白可能不是疾病的单一致病因素。

Filaggrin （FLG） plays an important role in epidermal barrier function by participating in the terminal keratinization of keratinocytes. Intermediate filament gene mutations can cause the decrease of FLG protein expression, then induce the occurrence of various kinds of allergic diseases. FLG gene mutations can lead to atopic dermatitis, and are also a major predisposing factor for ichthyosis vulgaris （IV） in Europeans and Asians. The FLG gene is closely associated with AD occurring in infancy or early childhood, but unrelated to AD occurring in late childhood and adulthood. Recently, researches have found that hypoxia- inducible factors can induce the decrease of FLG expression in mice, suggesting that FLG may not be the single pathogenic factor for these entities.