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KLK5失活可逆转Netherton综合征的皮肤特征。

KLK5 Inactivation Reverses Cutaneous Hallmarks of Netherton Syndrome.

作者信息

Furio Laetitia, Pampalakis Georgios, Michael Iacovos P, Nagy Andras, Sotiropoulou Georgia, Hovnanian Alain

机构信息

INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, Paris, France; University Paris Descartes - Sorbonne Paris Cité, Paris, France.

Department of Pharmacy, School of Health Sciences, University of Patras, Rion-Patras, Greece.

出版信息

PLoS Genet. 2015 Sep 21;11(9):e1005389. doi: 10.1371/journal.pgen.1005389. eCollection 2015 Sep.

Abstract

Netherton Syndrome (NS) is a rare and severe autosomal recessive skin disease which can be life-threatening in infants. The disease is characterized by extensive skin desquamation, inflammation, allergic manifestations and hair shaft defects. NS is caused by loss-of-function mutations in SPINK5 encoding the LEKTI serine protease inhibitor. LEKTI deficiency results in unopposed activities of kallikrein-related peptidases (KLKs) and aberrantly increased proteolysis in the epidermis. Spink5⁻/⁻ mice recapitulate the NS phenotype, display enhanced epidermal Klk5 and Klk7 protease activities and die within a few hours after birth because of a severe skin barrier defect. However the contribution of these various proteases in the physiopathology remains to be determined. In this study, we developed a new murine model in which Klk5 and Spink5 were both knocked out to assess whether Klk5 deletion is sufficient to reverse the NS phenotype in Spink5⁻/⁻ mice. By repeated intercrossing between Klk5⁻/⁻ mice with Spink5⁻/⁻ mice, we generated Spink5⁻/⁻Klk5⁻/⁻ animals. We showed that Klk5 knock-out in Lekti-deficient newborn mice rescues neonatal lethality, reverses the severe skin barrier defect, restores epidermal structure and prevents skin inflammation. Specifically, using in situ zymography and specific protease substrates, we showed that Klk5 knockout reduced epidermal proteolytic activity, particularly its downstream targets proteases KLK7, KLK14 and ELA2. By immunostaining, western blot, histology and electron microscopy analyses, we provide evidence that desmosomes and corneodesmosomes remain intact and that epidermal differentiation is restored in Spink5⁻/⁻Klk5⁻/⁻. Quantitative RT-PCR analyses and immunostainings revealed absence of inflammation and allergy in Spink5⁻/⁻Klk5⁻/⁻ skin. Notably, Il-1β, Il17A and Tslp levels were normalized. Our results provide in vivo evidence that KLK5 knockout is sufficient to reverse NS-like symptoms manifested in Spink5⁻/⁻ skin. These findings illustrate the crucial role of protease regulation in skin homeostasis and inflammation, and establish KLK5 inhibition as a major therapeutic target for NS.

摘要

Netherton综合征(NS)是一种罕见且严重的常染色体隐性皮肤病,对婴儿可能具有生命威胁。该疾病的特征为广泛的皮肤脱屑、炎症、过敏表现和毛干缺陷。NS由编码LEKTI丝氨酸蛋白酶抑制剂的SPINK5功能丧失性突变引起。LEKTI缺乏导致激肽释放酶相关肽酶(KLK)活性不受抑制,以及表皮中蛋白水解异常增加。Spink5⁻/⁻小鼠重现了NS表型,表现出增强的表皮Klk5和Klk7蛋白酶活性,并因严重的皮肤屏障缺陷在出生后数小时内死亡。然而,这些各种蛋白酶在生理病理学中的作用仍有待确定。在本研究中,我们开发了一种新的小鼠模型,其中Klk5和Spink5均被敲除,以评估Klk5缺失是否足以逆转Spink5⁻/⁻小鼠的NS表型。通过Klk5⁻/⁻小鼠与Spink5⁻/⁻小鼠之间的反复杂交,我们产生了Spink5⁻/⁻Klk5⁻/⁻动物。我们表明,在Lekti缺陷的新生小鼠中敲除Klk5可挽救新生儿致死率,逆转严重的皮肤屏障缺陷,恢复表皮结构并预防皮肤炎症。具体而言,使用原位酶谱分析和特异性蛋白酶底物,我们表明Klk5敲除降低了表皮蛋白水解活性,特别是其下游靶标蛋白酶KLK7、KLK14和ELA2。通过免疫染色、蛋白质印迹、组织学和电子显微镜分析,我们提供证据表明桥粒和角质桥粒保持完整,并且在Spink5⁻/⁻Klk5⁻/⁻中表皮分化得以恢复。定量RT-PCR分析和免疫染色显示Spink5⁻/⁻Klk5⁻/⁻皮肤中不存在炎症和过敏。值得注意的是,Il-1β、Il17A和Tslp水平恢复正常。我们的结果提供了体内证据,表明敲除KLK5足以逆转Spink5⁻/⁻皮肤中表现出的NS样症状。这些发现说明了蛋白酶调节在皮肤稳态和炎症中的关键作用,并将抑制KLK5确立为NS的主要治疗靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3592/4577096/1e54d2c4082b/pgen.1005389.g001.jpg

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本文引用的文献

1
Proteases and proteomics: cutting to the core of human skin pathologies.
Proteomics Clin Appl. 2014 Jun;8(5-6):389-402. doi: 10.1002/prca.201300081. Epub 2014 Apr 13.
2
Interleukin 17A: toward a new understanding of psoriasis pathogenesis.
J Am Acad Dermatol. 2014 Jul;71(1):141-50. doi: 10.1016/j.jaad.2013.12.036. Epub 2014 Mar 18.
3
Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome.
J Exp Med. 2014 Mar 10;211(3):499-513. doi: 10.1084/jem.20131797. Epub 2014 Feb 17.
4
Keratinocyte-specific mesotrypsin contributes to the desquamation process via kallikrein activation and LEKTI degradation.
J Invest Dermatol. 2014 Jun;134(6):1665-1674. doi: 10.1038/jid.2014.3. Epub 2014 Jan 3.
6
Intrinsic atopic dermatitis shows similar TH2 and higher TH17 immune activation compared with extrinsic atopic dermatitis.
J Allergy Clin Immunol. 2013 Aug;132(2):361-70. doi: 10.1016/j.jaci.2013.04.046. Epub 2013 Jun 15.
7
Kallikrein-related peptidase 5 functions in proteolytic processing of profilaggrin in cultured human keratinocytes.
J Biol Chem. 2013 Jun 14;288(24):17179-89. doi: 10.1074/jbc.M113.476820. Epub 2013 Apr 29.
8
Regulation of kallikrein-related peptidases in the skin - from physiology to diseases to therapeutic options.
Thromb Haemost. 2013 Sep;110(3):442-9. doi: 10.1160/TH12-11-0836. Epub 2013 Feb 28.
9
New era of biologic therapeutics in atopic dermatitis.
Expert Opin Biol Ther. 2013 Apr;13(4):549-61. doi: 10.1517/14712598.2013.758708. Epub 2013 Jan 16.

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