Endale Mehari, Aksoylar H Ibrahim, Hoebe Kasper
Department of Molecular and Cellular Immunology, Cincinnati Children's Hospital Research Foundation, MLC7021, Room S5.421, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA.
Department of Genetics and Complex Diseases, Harvard School of Public Health, Boston, MA 02115, USA.
Mediators Inflamm. 2015;2015:436017. doi: 10.1155/2015/436017. Epub 2015 Apr 7.
Inflammatory bowel disease (IBD) including Crohn's disease and ulcerative colitis is often precipitated by an abnormal immune response to microbiota due to host genetic aberrancies. Recent studies highlight the importance of the host genome and microflora interactions in the pathogenesis of mucosal inflammation including IBD. Specifically, genome-wide (GWAS) and also next-generation sequencing (NGS)-including whole exome or genome sequencing-have uncovered a large number of susceptibility loci that predispose to autoimmune diseases and/or the two phenotypes of IBD. In addition, the generation of "IBD-prone" animal models using both reverse and forward genetic approaches has not only helped confirm the identification of susceptibility loci but also shed critical insight into the underlying molecular and cellular pathways that drive colitis development. In this review, we summarize recent findings derived from studies involving a novel early-onset model of colitis as it develops in GTPase of immunity-associated protein 5- (Gimap5-) deficient mice. In humans, GIMAP5 has been associated with autoimmune diseases although its function is poorly defined. Here, we discuss how defects in Gimap5 function impair immunological tolerance and lymphocyte survival and ultimately drive the development of CD4(+) T cell-mediated early-onset colitis.
炎症性肠病(IBD)包括克罗恩病和溃疡性结肠炎,通常是由于宿主基因异常导致对微生物群的免疫反应异常而引发的。最近的研究强调了宿主基因组与微生物群相互作用在包括IBD在内的黏膜炎症发病机制中的重要性。具体而言,全基因组关联研究(GWAS)以及包括全外显子组或基因组测序在内的新一代测序(NGS)已经发现了大量易患自身免疫性疾病和/或IBD两种表型的易感基因座。此外,利用反向和正向遗传方法生成的“易患IBD”动物模型不仅有助于确认易感基因座的鉴定,还对驱动结肠炎发展的潜在分子和细胞途径提供了关键见解。在本综述中,我们总结了最近从涉及一种新型早发性结肠炎模型的研究中获得的发现,该模型在免疫相关蛋白5-(Gimap5-)缺陷小鼠中发展。在人类中,GIMAP5与自身免疫性疾病有关,但其功能尚不清楚。在这里,我们讨论Gimap5功能缺陷如何损害免疫耐受性和淋巴细胞存活,并最终驱动CD4(+) T细胞介导的早发性结肠炎的发展。