Wirnsberger Gerald, Zwolanek Florian, Stadlmann Johannes, Tortola Luigi, Liu Shang Wan, Perlot Thomas, Järvinen Päivi, Dürnberger Gerhard, Kozieradzki Ivona, Sarao Renu, De Martino Alba, Boztug Kaan, Mechtler Karl, Kuchler Karl, Klein Christoph, Elling Ulrich, Penninger Josef M
Institute of Molecular Biotechnology of the Austrian Academy of Sciences (IMBA), Vienna, Austria.
Department of Medical Biochemistry, Max F. Perutz Laboratories, Medical University of Vienna, Vienna, Austria.
Nat Genet. 2014 Sep;46(9):1028-33. doi: 10.1038/ng.3070. Epub 2014 Aug 17.
Neutrophils are key innate immune effector cells that are essential to fighting bacterial and fungal pathogens. Here we report that mice carrying a hematopoietic lineage-specific deletion of Jagn1 (encoding Jagunal homolog 1) cannot mount an efficient neutrophil-dependent immune response to the human fungal pathogen Candida albicans. Global glycobiome analysis identified marked alterations in the glycosylation of proteins involved in cell adhesion and cytotoxicity in Jagn1-deficient neutrophils. Functional analysis confirmed marked defects in neutrophil migration in response to Candida albicans infection and impaired formation of cytotoxic granules, as well as defective myeloperoxidase release and killing of Candida albicans. Treatment with granulocyte/macrophage colony-stimulating factor (GM-CSF) protected mutant mice from increased weight loss and accelerated mortality after Candida albicans challenge. Notably, GM-CSF also restored the defective fungicidal activity of bone marrow cells from humans with JAGN1 mutations. These data directly identify Jagn1 (JAGN1 in humans) as a new regulator of neutrophil function in microbial pathogenesis and uncover a potential treatment option for humans.
中性粒细胞是关键的固有免疫效应细胞,对抵抗细菌和真菌病原体至关重要。在此我们报告,携带造血谱系特异性Jagn1(编码Jagunal同源物1)缺失的小鼠,无法对人类真菌病原体白色念珠菌产生有效的中性粒细胞依赖性免疫反应。全球糖组学分析确定,Jagn1缺陷型中性粒细胞中参与细胞黏附和细胞毒性的蛋白质糖基化存在显著改变。功能分析证实,白色念珠菌感染后中性粒细胞迁移存在明显缺陷,细胞毒性颗粒形成受损,髓过氧化物酶释放和杀灭白色念珠菌的能力也存在缺陷。用粒细胞/巨噬细胞集落刺激因子(GM-CSF)治疗可保护突变小鼠在白色念珠菌攻击后体重减轻增加和死亡率加速。值得注意的是,GM-CSF还恢复了携带JAGN1突变的人类骨髓细胞有缺陷的杀真菌活性。这些数据直接确定Jagn1(人类中的JAGN1)是微生物发病机制中中性粒细胞功能的新调节因子,并揭示了一种针对人类的潜在治疗选择。