Proteomics Core Facility, School of Life Sciences, Station 19, Ecole Polytechnique Fédérale de Lausanne, CH-1015 Lausanne, Switzerland;
Mol Cell Proteomics. 2013 Dec;12(12):3543-58. doi: 10.1074/mcp.R113.032730. Epub 2013 Aug 21.
The development of novel therapies against neurodegenerative disorders requires the ability to detect their early, presymptomatic manifestations in order to enable treatment before irreversible cellular damage occurs. Precocious signs indicative of neurodegeneration include characteristic changes in certain protein levels, which can be used as diagnostic biomarkers when they can be detected in fluids such as blood plasma or cerebrospinal fluid. In the case of synucleinopathies, cerebrospinal alpha-synuclein (α-syn) has attracted great interest as a potential biomarker; however, there is ongoing debate regarding the association between cerebrospinal α-syn levels and neurodegeneration in Parkinson disease and synucleinopathies. Post-translational modifications (PTMs) have emerged as important determinants of α-syn's physiological and pathological functions. Several PTMs are enriched within Lewy bodies and exist at higher levels in α-synucleinopathy brains, suggesting that certain modified forms of α-syn might be more relevant biomarkers than the total α-syn levels. However, the quantification of PTMs in bodily fluids poses several challenges. This review describes the limitations of current immunoassay-based α-syn quantification methods and highlights how these limitations can be overcome using novel mass-spectrometry-based assays. In addition, we describe how advances in chemical synthesis, which have enabled the preparation of α-syn proteins that are site-specifically modified at single or multiple residues, can facilitate the development of more accurate assays for detecting and quantifying α-syn PTMs in health and disease.
新型神经退行性疾病治疗方法的开发需要能够检测到疾病的早期、无症状表现,以便在细胞发生不可逆转损伤之前进行治疗。神经退行性变的早期标志包括某些蛋白质水平的特征性变化,当这些变化可以在血液血浆或脑脊液等体液中检测到时,它们可以用作诊断生物标志物。在突触核蛋白病中,脑脊液α-突触核蛋白(α-syn)作为一种潜在的生物标志物引起了极大的关注;然而,脑脊液α-syn 水平与帕金森病和突触核蛋白病中的神经退行性变之间的关联仍存在争议。翻译后修饰(PTMs)已成为 α-syn 生理和病理功能的重要决定因素。几种 PTMs 在路易体中富集,并存在于突触核蛋白病大脑中的更高水平,这表明某些修饰形式的 α-syn 可能比总 α-syn 水平更相关的生物标志物。然而,在体液中定量 PTMs 存在一些挑战。本综述描述了当前基于免疫测定的 α-syn 定量方法的局限性,并强调了如何使用新型基于质谱的测定方法克服这些局限性。此外,我们描述了化学合成的进展如何使能够制备在单个或多个残基处特异性修饰的 α-syn 蛋白,从而促进开发更准确的检测和定量健康和疾病中 α-syn PTMs 的方法。