He Ping, Srikrishna Geetha, Freeze Hudson H
Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.
Glycobiology. 2014 Apr;24(4):392-8. doi: 10.1093/glycob/cwu006. Epub 2014 Jan 28.
Congenital disorders of glycosylation (CDGs) result from mutations in various N-glycosylation genes. The most common type, phosphomannomutase-2 (PMM2)-CDG (CDG-Ia), is due to deficient PMM2 (Man-6-P → Man-1-P). Many patients die from recurrent infections, but the mechanism is unknown. We found that glycosylation-deficient patient fibroblasts have less intercellular adhesion molecule-1 (ICAM-1), and because of its role in innate immune response, we hypothesized that its reduction might help explain recurrent infections in CDG patients. We, therefore, studied mice with mutations in Mpi encoding phosphomannose isomerase (Fru-6-P → Man-6-P), the cause of human MPI-CDG. We challenged MPI-deficient mice with an intraperitoneal injection of zymosan to induce an inflammatory response and found decreased neutrophil extravasation compared with control mice. Immunohistochemistry of mesenteries showed attenuated neutrophil egress, presumably due to poor ICAM-1 response to acute peritonitis. Since phosphomannose isomerase (MPI)-CDG patients and their cells improve glycosylation when given mannose, we provided MPI-deficient mice with mannose-supplemented water for 7 days. This restored ICAM-1 expression on mesenteric endothelial cells and enhanced transendothelial migration of neutrophils during acute inflammation. Attenuated inflammatory response in glycosylation-deficient mice may result from a failure to increase ICAM-1 on the vascular endothelial surface and may help explain recurrent infections in patients.
糖基化先天性疾病(CDGs)由各种N-糖基化基因突变引起。最常见的类型,磷酸甘露糖变位酶-2(PMM2)-CDG(CDG-Ia),是由于PMM2缺乏(甘露糖-6-磷酸→甘露糖-1-磷酸)所致。许多患者死于反复感染,但其机制尚不清楚。我们发现糖基化缺陷的患者成纤维细胞细胞间黏附分子-1(ICAM-1)较少,鉴于其在先天免疫反应中的作用,我们推测其减少可能有助于解释CDG患者的反复感染。因此,我们研究了编码磷酸甘露糖异构酶(果糖-6-磷酸→甘露糖-6-磷酸)的Mpi发生突变的小鼠,这是人类MPI-CDG的病因。我们通过腹腔注射酵母聚糖对MPI缺陷小鼠进行刺激以诱导炎症反应,发现与对照小鼠相比,中性粒细胞渗出减少。肠系膜的免疫组织化学显示中性粒细胞逸出减弱,推测是由于ICAM-1对急性腹膜炎反应不佳所致。由于磷酸甘露糖异构酶(MPI)-CDG患者及其细胞在给予甘露糖后糖基化得到改善,我们为MPI缺陷小鼠提供补充甘露糖的水7天。这恢复了肠系膜内皮细胞上ICAM-1的表达,并增强了急性炎症期间中性粒细胞的跨内皮迁移。糖基化缺陷小鼠的炎症反应减弱可能是由于未能增加血管内皮表面的ICAM-1,这可能有助于解释患者的反复感染。