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多发性硬化症的综合表型分析:基于发现的蛋白质组学及对假定生物标志物的当前认识

Comprehensive phenotyping in multiple sclerosis: discovery based proteomics and the current understanding of putative biomarkers.

作者信息

O'Connor Kevin C, Roy Sushmita Mimi, Becker Christopher H, Hafler David A, Kantor Aaron B

机构信息

Department of Neurology and the Center for Neurologic Disease, Brigham and Women's Hospital, Laboratory of Molecular Immunology, Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Dis Markers. 2006;22(4):213-25. doi: 10.1155/2006/670439.

DOI:10.1155/2006/670439
PMID:17124343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3851054/
Abstract

Currently, there is no single test for multiple sclerosis (MS). Diagnosis is confirmed through clinical evaluation, abnormalities revealed by magnetic resonance imaging (MRI), and analysis of cerebrospinal fluid (CSF) chemistry. The early and accurate diagnosis of the disease, monitoring of progression, and gauging of therapeutic intervention are important but elusive elements of patient care. Moreover, a deeper understanding of the disease pathology is needed, including discovery of accurate biomarkers for MS. Herein we review putative biomarkers of MS relating to neurodegeneration and contributions to neuropathology, with particular focus on autoimmunity. In addition, novel assessments of biomarkers not driven by hypotheses are discussed, featuring our application of advanced proteomics and metabolomics for comprehensive phenotyping of CSF and blood. This strategy allows comparison of component expression levels in CSF and serum between MS and control groups. Examination of these preliminary data suggests that several CSF proteins in MS are differentially expressed, and thus, represent putative biomarkers deserving of further evaluation.

摘要

目前,尚无针对多发性硬化症(MS)的单一检测方法。诊断需通过临床评估、磁共振成像(MRI)显示的异常以及脑脊液(CSF)化学分析来确认。该疾病的早期准确诊断、病情进展监测以及治疗干预评估是患者护理中的重要但难以捉摸的环节。此外,还需要更深入地了解疾病病理学,包括发现MS的准确生物标志物。在此,我们综述了与神经退行性变相关的MS假定生物标志物及其对神经病理学的贡献,特别关注自身免疫。此外,还讨论了不受假设驱动的生物标志物的新评估方法,重点介绍了我们应用先进的蛋白质组学和代谢组学对CSF和血液进行全面表型分析的情况。这种策略允许比较MS组和对照组CSF和血清中成分的表达水平。对这些初步数据的检查表明,MS患者的几种CSF蛋白存在差异表达,因此,它们代表了值得进一步评估的假定生物标志物。

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BMC Neurol. 2024 Oct 31;24(1):423. doi: 10.1186/s12883-024-03926-3.
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Plasma proteomic profiles from disease-discordant monozygotic twins suggest that molecular pathways are shared in multiple systemic autoimmune diseases.来自疾病不一致的同卵双胞胎的血浆蛋白质组图谱表明,多个系统性自身免疫性疾病存在共同的分子途径。
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