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兜甲蛋白与皮肤病

Loricrin and skin diseases
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摘要 兜甲蛋白是角质包膜的主要组成成分,对表皮的屏障功能起重要作用.该基因的表达调控受多个转录因子之间复杂的相互作用共同调控.兜甲蛋白基因突变可导致兜甲蛋白角皮症,突变体兜甲蛋白发生核易位干扰了角质形成细胞的终末分化,从而引起相应临床表型.兜甲蛋白在特应性皮炎和银屑病皮损内亦出现表达减少,其表达异常受相关细胞因子的影响. Loricrin,as the major component of the cornified envelope,plays an important role in epidermal barrier function.The expression of loricrin gene is co-regulated by complex interactions between multiple transcription factors.Loricrin gene mutations can lead to loricrin keratoderma.Nuclear translocation of mutant loricrin can interfere with terminal differentiation of keratinocytes,and cause corresponding clinical phenotypes.In addition,the expression of loricrin is decreased in lesions of atopic dermatitis and psoriasis,which may be attributed to some cytokines.
作者 张芳 赵恬 罗权 张三泉 张锡宝
机构地区 广州市皮肤病防治所 广东医学院 广州医科大学
出处 《国际皮肤性病学杂志》 2015年第5期326-328,共3页 International Journal of Dermatology and Venereology
基金 国家自然科学基金（81071286）
关键词 皮肤疾病 基因表达调控 突变 银屑病 兜甲蛋白 皮肤屏障 Skin diseases Gene expression regulation Mutation Psoriasis Loricrin Skin barrier
分类号 R751 [医药卫生—皮肤病学与性病学]
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参考文献18

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二级参考文献10

  • 1Maestrini E,Korge BP, Ocana-Sierra J,et al. A missensemutation in connexin26. D66H, causes mutilating keratodermawith sensorineural deafness (Vohwinkelf s syndrome) in threeunrelated families. Hum Mol Genet,1999,8: 1237-1243.
  • 2Serrano Castro PJ,Naranjo Fernandez C, Quiroga subirana P,et al. Vohwinkel syndrome secondary to missense mutationD66H in GJB2 gene ( connexin 26 ) can include epilepticmanifestations. Seizure, 2010,19: 129-131.
  • 3Bakirtzis G, Choudhry R, Aasen T,et al. Targeted epidermalexpression of mutant Connexin 26 ( D66H ) mimics trueVohwinkel syndrome and provides a model for the pathogenesisof dominant connexin disorders. Hum Mol Genet, 2003,12:1737-1744.
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国际皮肤性病学杂志
2015年 第5期

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