Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney School of Medical Sciences, Camperdown, NSW, Australia.
J Parkinsons Dis. 2021;11(3):1157-1165. doi: 10.3233/JPD-202508.
Reduced activity of lysosomal glucocerebrosidase is found in brain tissue from Parkinson's disease patients. Glucocerebrosidase is also highly expressed in peripheral blood monocytes where its activity is decreased in Parkinson's disease patients, even in the absence of GBA mutation.
To measure glucocerebrosidase activity in cryopreserved peripheral blood monocytes from 30 Parkinson's disease patients and 30 matched controls and identify any clinical correlation with disease severity.
Flow cytometry was used to measure lysosomal glucocerebrosidase activity in total, classical, intermediate, and non-classical monocytes. All participants underwent neurological examination and motor severity was assessed by the Movement Disorders Society Unified Parkinson's Disease Rating Scale.
Glucocerebrosidase activity was significantly reduced in the total and classical monocyte populations from the Parkinson's disease patients compared to controls. GCase activity in classical monocytes was inversely correlated to motor symptom severity.
Significant differences in monocyte glucocerebrosidase activity can be detected in Parkinson's disease patients using cryopreserved mononuclear cells and monocyte GCase activity correlated with motor features of disease. Being able to use cryopreserved cells will facilitate the larger multi-site trials needed to validate monocyte GCase activity as a Parkinson's disease biomarker.
帕金森病患者的脑组织中发现溶酶体葡萄糖脑苷脂酶活性降低。葡萄糖脑苷脂酶在外周血单核细胞中也高度表达,即使没有 GBA 突变,帕金森病患者的葡萄糖脑苷脂酶活性也会降低。
测量 30 名帕金森病患者和 30 名匹配对照者冷冻保存外周血单核细胞中的葡萄糖脑苷脂酶活性,并确定与疾病严重程度的任何临床相关性。
使用流式细胞术测量总单核细胞、经典单核细胞、中间单核细胞和非经典单核细胞中的溶酶体葡萄糖脑苷脂酶活性。所有参与者均接受神经系统检查,运动严重程度采用运动障碍协会统一帕金森病评定量表进行评估。
与对照组相比,帕金森病患者的总单核细胞和经典单核细胞群中的葡萄糖脑苷脂酶活性显著降低。经典单核细胞中的 GCase 活性与运动症状严重程度呈负相关。
使用冷冻保存的单核细胞可以检测到帕金森病患者单核细胞葡萄糖脑苷脂酶活性的显著差异,单核细胞 GCase 活性与疾病的运动特征相关。能够使用冷冻保存的细胞将有助于验证单核细胞 GCase 活性作为帕金森病生物标志物的更大规模多中心试验。