Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.
Profiling the Biochemical Signature of GBA-Related Parkinson's Disease in Peripheral Blood Mononuclear Cells.
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DOI：
10.1002/mds.28496
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发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Blandini F
中科院分区：
文献类型：
--
作者：
Avenali M;Cerri S;Ongari G;Ghezzi C;Pacchetti C;Tassorelli C;Valente EM;Blandini F
GBA突变是帕金森氏病(PD)最常见的遗传风险因素，也影响疾病的进展。这项研究的目的是定义一种能够区分GBA-PD和非突变PD的生化图谱。对29例GBA-PD、37例非突变型PD和40例正常对照的血浆、外周血单核细胞和外周血单核细胞中α-突触核蛋白水平进行分析，并检测外周血单核细胞中GCase和与GCase相关的主要溶酶体蛋白。对血浆和胞外体α-突触核蛋白水平的评估不能区分GBa-PD和非突变型PD；相反，外周血单个核细胞的测量明显区分非突变型PD和GABA-PD，前者显示显著更高的α-突触核蛋白水平、更低的GCase活性、更高的LIMP-2水平和更低的皂苷C水平。我们建议外周血单个核细胞作为一种易于获取和管理的模型来提供GBA-PD的独特生化特征，这可能对临床试验中的患者分层或选择有用。©2021作者。《运动障碍》由Wiley期刊有限责任公司代表国际帕金森病和运动障碍协会出版
GBA mutations are the commonest genetic risk factor for Parkinson's disease (PD) and also impact disease progression. The objective of this study was to define a biochemical profile that could distinguish GBA‐PD from non‐mutated PD. 29 GBA‐PD, 37 non‐mutated PD, and 40 controls were recruited; α‐synuclein levels in plasma, exosomes, and peripheral blood mononuclear cells were analyzed, GCase and main GCase‐related lysosomal proteins in peripheral blood mononuclear cells were measured. Assessment of plasma and exosomal α‐synuclein levels did not allow differentiation between GBA‐PD and non‐mutated PD; conversely, measurements in peripheral blood mononuclear cells clearly distinguished GBA‐PD from non‐mutated PD, with the former group showing significantly higher α‐synuclein levels, lower GCase activity, higher LIMP‐2, and lower Saposin C levels. We propose peripheral blood mononuclear cells as an easily accessible and manageable model to provide a distinctive biochemical profile of GBA‐PD, potentially useful for patient stratification or selection in clinical trials. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
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