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首页> 外文期刊>Journal of Neuroimmunology: Official Bulletin of the Research Committee on Neuroimmunology of the World Federation of Neurology >Multiple sclerosis: genomic rewards.
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Multiple sclerosis: genomic rewards.

机译：多发性硬化症：基因组奖励。

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A large body of immunologic, epidemiologic, and genetic data indicate that tissue injury in multiple sclerosis (MS) results from an abnormal immune response to one or more myelin antigens that develops in genetically susceptible individuals after exposure to an as-yet undefined causal agent. The genetic component of MS etiology is believed to result from the action of several genes of moderate effect. The incomplete penetrance of MS susceptibility alleles probably reflects interactions with other genes, post transcriptional regulatory mechanisms, and significant nutritional and environmental influences. Equally significant, it is also likely that genetic heterogeneity exists, meaning that specific genes influence susceptibility and pathogenesis in some affects but not in others. Results in multiplex MS families confirm the genetic importance of the MHC region in conferring susceptibility of MS. Susceptibility may be mediated by the class II genes themselves (DR, DQ or both), related to the known function of these molecules in the normal immune response, e.g. antigen binding and presentation and T cell repertoire determination. The possibility that other genes in the MHC or the telomeric region of the MHC are responsible for the observed genetic effect cannot be excluded. The data also indicate that although the MHC region plays a significant role in MS susceptibility, much of the genetic effect in MS remains to be explained. Some loci may be involved in the initial pathogenic events, while others could influence the development and progression of the disease. The past few years have seen real progress in the development of laboratory and analytical approaches to study non-Mendelian complex genetic disorders and in defining the pathological basis of demyelination, setting the stage for the final characterization of the genes involved in MS susceptibility and pathogenesis. Their identification and characterization is likely to define the basic etiology of the disease, improve risk assessment and influence therapeutics.
机译：大量的免疫学，流行病学和遗传学数据表明，多发性硬化症（MS）中的组织损伤是由于对一种或多种髓磷脂抗原的异常免疫反应导致的，这种免疫反应在遗传易感人群中暴露于尚未确定的病因后发展。据认为，MS病因的遗传成分是由几种具有中等作用的基因共同作用所致。 MS易感等位基因的不完全渗透可能反映了与其他基因的相互作用，转录后调控机制以及重要的营养和环境影响。同样重要的是，遗传异质性也可能存在，这意味着特定基因在某些影响中影响易感性和发病机制，而在其他影响中则不然。多重MS家族的结果证实了MHC区域在赋予MS易感性方面的遗传重要性。易感性可以由II类基因本身（DR，DQ或两者）介导，其与这些分子在正常免疫应答中的已知功能有关，例如在免疫应答中。抗原结合和呈递以及T细胞库的测定。不能排除MHC或MHC端粒区域中的其他基因负责观察到的遗传效应的可能性。数据还表明，尽管MHC区域在MS易感性中起重要作用，但MS中的许多遗传效应仍有待解释。一些基因座可能参与了最初的致病性事件，而其他基因座可能会影响疾病的发展和进程。在过去的几年中，在研究非孟德尔复杂遗传疾病的实验室和分析方法的发展以及定义脱髓鞘的病理学基础，为MS易感性和致病性相关基因的最终表征奠定了基础方面，已经取得了真正的进展。它们的鉴定和表征可能会定义疾病的基本病因，改善风险评估并影响治疗方法。

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