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首页> 外文期刊>Journal of dermatological science >Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis
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Interactions between FATP4 and ichthyin in epidermal lipid processing may provide clues to the pathogenesis of autosomal recessive congenital ichthyosis

机译：表皮脂质加工过程中FATP4和鱼腥素之间的相互作用可能为常染色体隐性先天性鱼鳞病的发病机理提供线索

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Background: Autosomal recessive congenital ichthyosis (ARCI) is caused by mutations in ??10 different genes, of which transglutaminase-1 (TGM1) predominates. A rare form is ichthyosis prematurity syndrome (IPS) caused by mutations in SLC27A4 encoding fatty acid transporter protein 4 (FATP4), believed to be an acyl-CoA synthetase activating long- and very-long-chain FA. Another ARCI is caused by mutations in NIPAL4, coding for ichthyin, which is proposed to be a magnesium transporter or a trans-membrane receptor. A possible interaction between FATP4 and ichthyin has not been studied before. Objective: To find common denominators in the pathogenesis of ARCI. Methods: FATP4 and ichthyin were analyzed by immunofluorescence and proximity ligation assay (PLA) in healthy and ARCI patient skin and in in vitro models of ARCI epidermis. Results: Both proteins were expressed in the upper stratum granulosum of normal epidermis and PLA confirmed a close interaction between FATP4 and ichthyin. In IPS skin lacking FATP4 we found reduced ichthyin expression and this finding could be reproduced in organotypic epidermis with siRNA silenced SLC27A4. In contrast, increased FATP4 staining was found in patients with ichthyin (NIPAL4) mutations and in organotypic epidermis with silenced NIPAL4. In patients with TGM1 mutations, the expression of both FATP4 and ichthyin was increased, but the PLA signal was low probably indicating a malfunctioning protein interaction. Conclusion: Our study suggests that FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function. It is also hypothesized that ichthyin serves as Mg2+-transporter for FATP4 in this process. ? 2012 Japanese Society for Investigative Dermatology.
机译：背景：常染色体隐性先天性鱼鳞病（ARCI）是由?? 10个不同基因的突变引起的，其中转谷氨酰胺酶-1（TGM1）占主导。一种罕见的形式是鱼鳞病早熟综合症（IPS），它是由编码脂肪酸转运蛋白4（FATP4）的SLC27A4中的突变引起的，据信这是激活长链和超长链FA的酰基辅酶A合成酶。另一个ARCI是由编码鱼腥素的NIPAL4突变引起的，该突变被认为是镁转运蛋白或跨膜受体。以前尚未研究过FATP4和鱼腥素之间可能的相互作用。目的：寻找ARCI发病机制中的共同点。方法：通过免疫荧光和邻近结扎法（PLA）在健康和ARCI患者皮肤以及ARCI表皮体外模型中分析FATP4和鱼腥素。结果：两种蛋白均在正常表皮的上层颗粒中表达，并且PLA证实FATP4与鱼腥素之间存在紧密的相互作用。在缺少FATP4的IPS皮肤中，我们发现鱼鳞蛋白表达降低，并且使用siRNA沉默的SLC27A4可以在器官型表皮中复制这一发现。相比之下，鱼鳞蛋白（NIPAL4）突变的患者和NIPAL4沉默的器官表皮患者的FATP4染色增加。在具有TGM1突变的患者中，FATP4和鱼腥素的表达均增加，但PLA信号很低，可能表明蛋白质相互作用异常。结论：我们的研究表明，FATP4，鱼鳞蛋白和TGM1在维持表皮屏障功能所必需的脂质加工中相互作用。还假设鱼鳞蛋白在此过程中充当FATP4的Mg2 +转运蛋白。 ？ 2012年日本皮肤病研究学会。

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