唾液 α-突触核蛋白作为 22q11.2 缺失综合征帕金森病的候选生物标志物。
Salivary α-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.
机构信息
Fabrizio Spaziani Hospital, Frosinone, Italy.
Department of Human Neurosciences, Sapienza University, Rome, Italy.
出版信息
Mov Disord Clin Pract. 2024 Jul;11(7):808-813. doi: 10.1002/mdc3.14046. Epub 2024 Apr 25.
BACKGROUND
22q11.2 deletion syndrome (22q11.2DS) has been linked to an increased risk of early-onset Parkinson's disease. However, the pathophysiological mechanisms underlying parkinsonism remain poorly understood.
OBJECTIVE
The objective is to investigate salivary total α-synuclein levels in 22q11.2DS patients with and without parkinsonian motor signs.
METHODS
This cross-sectional study included 10 patients with 22q11.2DS with parkinsonism (Park+), ten 22q11.2DS patients without parkinsonism (Park-), and 10 age and sex-comparable healthy subjects (HS). Salivary and serum α-synuclein levels were measured using enzyme-linked immunosorbent assay.
RESULTS
Salivary total α-synuclein concentration was significantly lower in Park (+) patients than in Park (-) patients and HS (P = 0.007). In addition, salivary α-synuclein showed good accuracy in discriminating Park (+) from Park (-) patients (area under the curve = 0.86) and correlated with motor severity and cognitive impairment.
CONCLUSION
This exploratory study suggests that the parkinsonian phenotype of 22q11.2DS is associated with a reduced concentration of monomeric α-synuclein in biological fluids.
背景
22q11.2 缺失综合征（22q11.2DS）与早发性帕金森病的风险增加有关。然而，帕金森病的病理生理机制仍知之甚少。
目的
本研究旨在探讨伴有或不伴有帕金森运动症状的 22q11.2DS 患者的唾液总α-突触核蛋白水平。
方法
这项横断面研究纳入了 10 名伴帕金森病（Park+）的 22q11.2DS 患者、10 名不伴帕金森病（Park-）的 22q11.2DS 患者和 10 名年龄和性别相匹配的健康对照者（HS）。采用酶联免疫吸附试验法检测唾液和血清α-突触核蛋白水平。
结果
Park+患者的唾液总α-突触核蛋白浓度明显低于 Park-患者和 HS（P=0.007）。此外，唾液α-突触核蛋白在区分Park+和Park-患者方面具有良好的准确性（曲线下面积=0.86），并与运动严重程度和认知障碍相关。
结论
这项探索性研究表明，22q11.2DS 的帕金森表型与生物液中单聚体α-突触核蛋白浓度降低有关。
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