文章摘要
柳欣,蔡慧慧,郑元初.红细胞来源α-突触核蛋白作为早发型帕金森病生物标记物的研究[J].神经损伤功能重建,2023,(6):311-315
红细胞来源α-突触核蛋白作为早发型帕金森病生物标记物的研究
Alpha-Synuclein Species in Red Blood Cells as Biomarkers for Early-onset Parkinson’s Dis⁃ease
  
DOI:
中文关键词: 红细胞  α-突触核蛋白  早发型帕金森病  生物标记物
英文关键词: erythrocyte  α-synuclein  early-onset Parkinson’s disease  biomarker
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作者单位
柳欣,蔡慧慧,郑元初 首都医科大学附属 北京天坛医院运动 障碍性疾病科 
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中文摘要:
      目的:研究早发型(发病年龄<50岁)帕金森病(PD)患者红细胞中是否存在α-突触核蛋白(α-Syn)异 常沉积,以及红细胞来源α-Syn能否作为早发型PD的生物标志物。方法:早发型PD患者26例纳入早发型 PD组,30例年龄、性别匹配的健康对照受试者纳入对照组;收集所有入组受试者的人口学及临床资料。对 早发型PD组的患者进行国际运动障碍协会统一帕金森病评价量表(MDS-UPDRS)和Hoehn&Yahr(H-Y) 量表、简易精神状态检查量表(MMSE)、蒙特利尔认知评估量表(MoCA)测评。应用电化学发光免疫测定 法检测 2 组红细胞中的α-Syn 单体和α-Syn 聚集体浓度,并分析早发型 PD 患者红细胞来源α-Syn 单体和 α-Syn聚集体浓度与临床指标的相关性。结果:早发型PD患者的α-Syn单体和α-Syn聚集体的水平显著高 于健康对照(P=0.009、P<0.0001)。在诊断效力方面,红细胞α-Syn聚集体优于α-Syn单体,红细胞α-Syn聚 集体诊断早发型PD的AUC为0.887(95% CI 0.794 - 0.981),敏感度为73.3%,特异度为96.2%。早发型PD 组红细胞来源α-Syn单体和α-Syn聚集体浓度与患者年龄、病程、H-Y分期、MDS-UPDRS-Ⅲ评分、MMSE 评 分、MOCA评分等指标均无显著相关性(P>0.05)。结论:早发型PD患者红细胞中存在α-Syn异常沉积,红 细胞来源α-Syn特别是α-Syn聚集体可作为早发型PD的生物标志物。
英文摘要:
      To investigate the presence of abnormal α-synuclein ( α-Syn) deposition in red blood cells (RBCs) in patients with early-onset Parkinson’s disease (PD) and determine whether RBC-derived α-Syn could serve as a biomarker for early-onset PD. Methods: A total of 26 patients with early-onset PD (onset age< 50 years) were included in the early-onset PD group, and 30 age- and sex-matched healthy control participants were included in the control group (HCs). Demographic and clinical data were collected for all participants. The Movement Disorder Society-Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), Hoehn and Yahr (H-Y) scale, Mini-Mental State Examination (MMSE), and Montreal Cognitive Assessment (MoCA) were used to assess the patients in the early-onset PD group. Electrochemiluminescence immunoassay was performed to measure the levels of α-Syn monomers and aggregates in the RBCs of both groups. The correlation between RBC-derived α-Syn levels and clinical indicators in patients with early-onset PD was analyzed. Results: The levels of both α-Syn monomers and aggregates in RBCs were significantly higher in patients with early-onset PD than in HCs (P=0.009, P<0.0001). In terms of diagnostic performance, RBC-derived α-Syn aggregates showed superior performance over monomers, with an area under the receiver operating characteristic curve (AUC) of 0.887 (95% CI 0.794-0.981), 73.3% sensitivity, and 96.2% specificity for diagnosing early-onset PD. The levels of RBC-derived α-Syn monomers and aggregates showed no significant correlation with patient age, disease duration, H-Y stage, MDS-UPDRS III score, MMSE score, or MoCA score (P>0.05). Conclusion: Abnormal α-Syn deposition was found in the RBCs of patients with early-onset PD. RBC-derived α-Syn, particularly α-Syn aggregates, could serve as a biomarker for early-onset PD.
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