Background

Variations of α-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 α-synuclein gene (SNCA) (n = 29), and respective age-/sex-matched controls. Levels of total α-synuclein were assessed using an in-house ELISA assay.

Results

A statistically significant increase of α-synuclein levels was found in serum, but not plasma, from GU-PD patients compared to healthy controls. A statistically significant decrease of α-synuclein levels was found in serum and plasma from symptomatic A53T mutation carriers compared to healthy controls. Plasma α-synuclein levels were modestly negatively correlated with UPDRS part III score and disease duration in A53T-PD patients.

Conclusion

Increased α-synuclein levels in serum of GU-PD patients suggest a systemic deregulation of α-synuclein homeostasis in PD. The opposite results in A53T-PD highlight the complexity of α-synuclein homeostatic regulation in PD, and suggest the possibility of reduced expression of the mutant allele.

中文翻译：

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遗传性和非遗传性帕金森氏病患者的外周α-突触核蛋白水平。

背景

据报道，帕金森氏病（PD）患者的血清和血浆中α-突触核蛋白水平存在变化。

方法

血清和血浆是从没有已知突变（GU-PD，n = 124）的PD患者，α-突触核蛋白基因（SNCA）中A53T / G209A点突变的携带者（n = 29）以及各自的年龄/性别匹配的控件。使用内部ELISA分析评估总α-突触核蛋白的水平。

结果

与健康对照组相比，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意义的增加。与健康对照组相比，有症状的A53T突变携带者的血清和血浆中α-突触核蛋白水平的降低具有统计学意义。A53T-PD患者的血浆α-突触核蛋白水平与UPDRS第III部分评分和疾病持续时间呈负相关。

结论

GU-PD患者血清中α-突触核蛋白水平的升高表明PD中α-突触核蛋白稳态的系统性失调。A53T-PD的相反结果突出了PD中α-突触核蛋白稳态调节的复杂性，并暗示了突变等位基因表达降低的可能性。