Peripheral alpha-synuclein levels in patients with genetic and non-genetic forms of Parkinson's disease
Peripheral alpha-synuclein levels in patients with genetic and non-genetic forms of Parkinson's disease
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DOI：
10.1016/j.parkreldis.2020.03.014
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发表时间：
2020-04-01
影响因子：
4.1
通讯作者：
Stefanis, Leonidas
中科院分区：
文献类型：
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作者：
Emmanouilidou, Evangelia;Papagiannakis, Nikolaos;Stefanis, Leonidas
背景：据报道，帕金森病 (PD) 患者的血清和血浆中 α-突触核蛋白水平存在差异。方法：血清和血浆取自无已知突变的帕金森病患者 (GU-PD，n = 124))、α-突触核蛋白基因 (SNCA) 中 A53T/G209A 点突变的携带者 (n = 29) 以及各自年龄/性别匹配的对照。使用内部 ELISA 测定评估总 α-突触核蛋白水平。结果：与健康对照相比，GU-PD 患者的血清（而非血浆）中的 α-突触核蛋白水平有统计学显着性增加。与健康对照相比，有症状的 A53T 突变携带者的血清和血浆中 α-突触核蛋白水平显着降低。 A53T-PD 患者血浆 α-突触核蛋白水平与 UPDRS 第 III 部分评分和疾病持续时间呈适度负相关。结论：GU-PD 患者血清中 α-突触核蛋白水平升高提示 PD 中 α-突触核蛋白稳态的系统性失调。 A53T-PD 中的相反结果凸显了 PD 中 α-突触核蛋白稳态调节的复杂性，并表明突变等位基因表达减少的可能性。
Background: Variations of alpha-synuclein levels have been reported in serum and plasma in Parkinson's Disease (PD) Patients.Methods: Serum and plasma were obtained from PD patients without known mutations (GU-PD, n = 124)), carriers of the A53T/G209A point mutation in the alpha-synuclein gene (SNCA) (n = 29), and respective age-/sex-matched controls. Levels of total alpha-synuclein were assessed using an in-house ELISA assay.Results: A statistically significant increase of alpha-synuclein levels was found in serum, but not plasma, from GU-PD patients compared to healthy controls. A statistically significant decrease of alpha-synuclein levels was found in serum and plasma from symptomatic A53T mutation carriers compared to healthy controls. Plasma alpha-synuclein levels were modestly negatively correlated with UPDRS part III score and disease duration in A53T-PD patients.Conclusion: Increased alpha-synuclein levels in serum of GU-PD patients suggest a systemic deregulation of alpha-synuclein homeostasis in PD. The opposite results in A53T-PD highlight the complexity of alpha-synuclein homeostatic regulation in PD, and suggest the possibility of reduced expression of the mutant allele.