Department of Immunology, Flinders Medical Centre and Flinders University, Bedford Park, South Australia, Australia.
Immunol Cell Biol. 2012 Mar;90(3):304-9. doi: 10.1038/icb.2011.108. Epub 2012 Jan 17.
Ro/SSA and La/SSB comprise a linked set of autoantigens that are clinically important members of the extractable nuclear antigen family and key translational biomarkers for lupus and primary Sjögren's syndrome. Autoantibodies directed against the Ro60 and La polypeptide components of the Ro/La ribonucleoprotein complex, and the structurally unrelated Ro52 protein, mediate tissue damage in the neonatal lupus syndrome, a model of passively acquired autoimmunity in humans in which the most serious manifestation is congenital heart block (CHB). Recent studies have concentrated on two distinct pathogenic mechanisms by which maternal anti-Ro/La autoantibodies can cause CHB: by forming immune complexes with apoptotic cells in developing fetal heart; and/or by acting as functional autoantibodies that cross-react with and inhibit calcium channels. Although the precise role of the individual autoantibodies is yet to be settled, maternal anti-Ro60 and anti-Ro52 remain the most likely culprits. This article will discuss the molecular pathways that culminate in the development of CHB, including the recent discovery of β2 glycoprotein I as a protective factor, and present a proteomic approach based on direct mass spectrometric sequencing, which may give a more representative snapshot of the idiotype repertoire of these autoantibodies than genomic-based technologies.
Ro/SSA 和 La/SSB 构成了一组相互关联的自身抗原,它们是提取核抗原家族中临床重要的成员,也是狼疮和原发性干燥综合征的关键翻译生物标志物。针对 Ro/La 核糖核蛋白复合物的 Ro60 和 La 多肽成分以及结构上不相关的 Ro52 蛋白的自身抗体介导新生儿狼疮综合征中的组织损伤,这是人类被动获得性自身免疫的一种模型,其中最严重的表现是先天性心脏传导阻滞(CHB)。最近的研究集中在两种不同的致病机制上,即母体抗 Ro/La 自身抗体如何导致 CHB:与发育中的胎儿心脏中的凋亡细胞形成免疫复合物;和/或作为功能性自身抗体,与钙通道交叉反应并抑制钙通道。尽管个别自身抗体的确切作用尚未确定,但母体抗 Ro60 和抗 Ro52 仍然是最有可能的罪魁祸首。本文将讨论导致 CHB 发展的分子途径,包括最近发现的β2 糖蛋白 I 作为保护因子,并介绍一种基于直接质谱测序的蛋白质组学方法,该方法可能比基于基因组的技术更能代表这些自身抗体的独特型库的代表性快照。