Sørensen Ole E, Clemmensen Stine N, Dahl Sara L, Østergaard Ole, Heegaard Niels H, Glenthøj Andreas, Nielsen Finn Cilius, Borregaard Niels
J Clin Invest. 2014 Oct;124(10):4539-48. doi: 10.1172/JCI76009. Epub 2014 Sep 17.
Papillon-Lefèvre syndrome (PLS) results from mutations that inactivate cysteine protease cathepsin C (CTSC), which processes a variety of serine proteases considered essential for antimicrobial defense. Despite serine protease-deficient immune cell populations, PLS patients do not exhibit marked immunodeficiency. Here, we characterized a 24-year-old woman who had suffered from severe juvenile periodontal disease, but was otherwise healthy, and identified a homozygous missense mutation in CTSC indicative of PLS. Proteome analysis of patient neutrophil granules revealed that several proteins that normally localize to azurophil granules, including the major serine proteases, elastase, cathepsin G, and proteinase 3, were absent. Accordingly, neutrophils from this patient were incapable of producing neutrophil extracellular traps (NETs) in response to ROS and were unable to process endogenous cathelicidin hCAP-18 into the antibacterial peptide LL-37 in response to ionomycin. In immature myeloid cells from patient bone marrow, biosynthesis of CTSC and neutrophil serine proteases appeared normal along with initial processing and sorting to cellular storage. In contrast, these proteins were completely absent in mature neutrophils, indicating that CTSC mutation promotes protease degradation in more mature hematopoietic subsets, but does not affect protease production in progenitor cells. Together, these data indicate CTSC protects serine proteases from degradation in mature immune cells and suggest that neutrophil serine proteases are dispensable for human immunoprotection.
掌跖角化牙周破坏综合征(PLS)是由半胱氨酸蛋白酶组织蛋白酶C(CTSC)失活的突变引起的,CTSC可加工多种被认为对抗菌防御至关重要的丝氨酸蛋白酶。尽管存在丝氨酸蛋白酶缺陷的免疫细胞群体,但PLS患者并未表现出明显的免疫缺陷。在此,我们对一名患有严重青少年牙周病但其他方面健康的24岁女性进行了特征分析,并在CTSC中鉴定出一个纯合错义突变,提示为PLS。对患者中性粒细胞颗粒的蛋白质组分析显示,几种通常定位于嗜天青颗粒的蛋白质缺失,包括主要的丝氨酸蛋白酶、弹性蛋白酶、组织蛋白酶G和蛋白酶3。因此,该患者的中性粒细胞无法响应ROS产生中性粒细胞胞外陷阱(NETs),并且无法响应离子霉素将内源性cathelicidin hCAP-18加工成抗菌肽LL-37。在患者骨髓的未成熟髓细胞中,CTSC和中性粒细胞丝氨酸蛋白酶的生物合成看起来正常,同时也有初始加工和分选至细胞储存的过程。相比之下,这些蛋白质在成熟中性粒细胞中完全缺失,这表明CTSC突变促进了更成熟造血亚群中蛋白酶的降解,但不影响祖细胞中蛋白酶的产生。总之,这些数据表明CTSC可保护丝氨酸蛋白酶在成熟免疫细胞中不被降解,并提示中性粒细胞丝氨酸蛋白酶对人类免疫保护并非必需。
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