Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, Berlin 13353, Germany.
Hum Mol Genet. 2013 Feb 1;22(3):433-43. doi: 10.1093/hmg/dds439. Epub 2012 Oct 24.
Marfan syndrome (MFS) is an inherited disorder of connective tissue caused by mutations in the gene for fibrillin-1 (FBN1). The complex pathogenesis of MFS involves changes in transforming growth factor beta (TGF-β) signaling and increased matrix metalloproteinase (MMP) expression. Fibrillin-1 and elastin have repeated Gly-x-x- Pro-Gly (GxxPG) motifs that can induce a number of effects including macrophage chemotaxis and increased MMP activity by induction of signaling through the elastin-binding protein (EBP). In this work, we test the hypothesis that antagonism of GxxPG fragments can suppress disease progression in the Marfan aorta. Fibrillin-1 underexpressing mgR/mgR Marfan mice were treated with weekly intraperitoneal (i.p.) injections of an antibody directed against GxxPG fragments. The treatment was started at 3 weeks of age and continued for 8 weeks. The treatment significantly reduced MMP-2, MMP-9 and pSmad2 activity, as well as fragmentation and macrophage infiltration in the aorta of the mgR/mgR mice. Additionally, airspace enlargement and increased pSmad2 activity in the lungs of mgR/mgR animals were prevented by the treatment. Our findings demonstrate the important role of secondary cellular events caused by GxxPG-containing fragments and matrix-induced inflammatory activity in the pathogenesis of thoracic aortic aneurysm (TAA) in mgR/mgR mice. Moreover, the results of the current study suggest that antagonism of the effects of GxxPG fragments may be a fruitful therapeutic strategy in MFS.
马凡综合征(MFS)是一种遗传性结缔组织疾病,由原纤维蛋白 1(FBN1)基因突变引起。MFS 的复杂发病机制涉及转化生长因子β(TGF-β)信号的改变和基质金属蛋白酶(MMP)表达的增加。原纤维蛋白 1 和弹性蛋白具有重复的 Gly-x-x-Pro-Gly(GxxPG)基序,这些基序可以通过诱导弹性蛋白结合蛋白(EBP)的信号转导,引起包括巨噬细胞趋化和 MMP 活性增加等多种效应。在这项工作中,我们检验了以下假设:拮抗 GxxPG 片段可以抑制马凡综合征主动脉的疾病进展。我们用针对 GxxPG 片段的抗体每周对纤维蛋白原低表达的 mgR/mgR 马凡综合征小鼠进行腹腔内(i.p.)注射治疗。治疗从 3 周龄开始,持续 8 周。治疗显著降低了 mgR/mgR 小鼠主动脉中 MMP-2、MMP-9 和 pSmad2 的活性以及碎片和巨噬细胞浸润。此外,治疗还预防了 mgR/mgR 动物肺部的气腔扩大和 pSmad2 活性增加。我们的研究结果表明,GxxPG 片段引起的次级细胞事件和基质诱导的炎症活性在 mgR/mgR 小鼠胸主动脉瘤(TAA)发病机制中起着重要作用。此外,本研究的结果表明,拮抗 GxxPG 片段的作用可能是 MFS 一种有前途的治疗策略。