Dermatology and Genetic Medicine, Division of Molecular Medicine, University of Dundee, Dundee, UK.
J Invest Dermatol. 2012 Mar;132(3 Pt 2):751-62. doi: 10.1038/jid.2011.393. Epub 2011 Dec 8.
The discovery, in 2006, that loss-of-function mutations in the filaggrin (FLG) gene are the cause of ichthyosis vulgaris-the most common disorder of keratinization-and also a strong genetic risk factor for atopic eczema, marked a significant breakthrough in the understanding of eczema pathogenesis. Subsequent investigations of the role of FLG-null mutations have identified a series of significant associations with atopic disease phenotypes, including atopic asthma, allergic rhinitis, and peanut allergy. However, many questions remain to be answered in relation to the precise mechanisms by which deficiency of an intracellular protein expressed primarily in the differentiating epidermis may contribute to the development of cutaneous and systemic pathology. This review aims to highlight the key milestones in filaggrin research over the past 25 years, to discuss the mechanistic, clinical, and therapeutic implications, and to consider possible future directions for ongoing investigation.
2006 年发现,丝聚蛋白(FLG)基因突变导致寻常型鱼鳞病——最常见的角化异常疾病,也是特应性皮炎的一个强烈遗传风险因素,这标志着人们对特应性皮炎发病机制的理解取得了重大突破。随后对 FLG 无功能突变作用的研究确定了一系列与特应性疾病表型的显著关联,包括特应性哮喘、过敏性鼻炎和花生过敏。然而,与这种主要在分化表皮中表达的细胞内蛋白缺失如何导致皮肤和全身病理的发展有关的许多问题仍有待解答。本文旨在重点介绍过去 25 年丝聚蛋白研究的关键里程碑,讨论其机制、临床和治疗意义,并考虑正在进行的研究的未来可能方向。