Department of Physiology and Biophysics, State University of New York at Buffalo, Buffalo, New York, USA.
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Mov Disord. 2022 Jan;37(1):70-79. doi: 10.1002/mds.28786. Epub 2021 Sep 26.
Despite intense efforts to develop an objective diagnostic test for Parkinson's disease, there is still no consensus on biomarkers that can accurately diagnose the disease.
Identification of biomarkers for idiopathic Parkinson's disease (PD) may enable accurate diagnosis of the disease. We tried to find molecular and cellular differences in dopaminergic (DA) neurons derived from healthy subjects and idiopathic PD patients with or without rest tremor at onset.
We measured the expression of genes controlling dopamine synthesis, sequestration, and catabolism as well as the levels of corresponding metabolites and reactive oxygen species in midbrain DA neurons differentiated from induced pluripotent stem cells (iPSCs) of healthy subjects and PD patients with or without rest tremor.
Significant differences in DA-related gene expression, metabolites, and oxidative stress were found between midbrain DA neurons derived from healthy subjects and patients with PD. DA neurons derived from PD patients with or without rest tremor at onset exhibited significant differences in the levels of some of these transcripts, metabolites, and oxidative stress.
The unique combination of these quantifiable molecular and cellular traits in iPSC-derived midbrain DA neurons can distinguish healthy subjects from idiopathic PD patients and segregate PD patients with or without rest tremor at onset. The strategy may be used to develop an objective diagnostic test for PD.
尽管人们努力开发帕金森病的客观诊断测试,但仍没有关于能够准确诊断该疾病的生物标志物的共识。
鉴定特发性帕金森病 (PD) 的生物标志物,可能有助于准确诊断该疾病。我们试图寻找源自健康受试者和有无起始性静止性震颤的特发性 PD 患者的多巴胺能 (DA) 神经元中的分子和细胞差异。
我们测量了从中分离的诱导多能干细胞 (iPSC) 中控制多巴胺合成、隔离和分解代谢的基因以及相应代谢物和活性氧水平的表达。从中分离的中脑 DA 神经元健康受试者和有无起始性静止性震颤的 PD 患者。
从中脑 DA 神经元中发现了与 DA 相关的基因表达、代谢物和氧化应激之间的显著差异。有无起始性静止性震颤的 PD 患者起源的 DA 神经元在这些转录本、代谢物和氧化应激的某些水平上存在显著差异。
这些可量化的分子和细胞特征在 iPSC 衍生的中脑 DA 神经元中的独特组合,可以将健康受试者与特发性 PD 患者区分开来,并将有无起始性静止性震颤的 PD 患者分开。该策略可用于开发 PD 的客观诊断测试。