Abstract

Background:

Phosphatidylinositol-binding clathrin assembly protein (PICALM) is a validated genetic risk factor for late-onset Alzheimer’s disease (AD) and is associated with other neurodegenerative diseases. However, PICALM expression in the blood of neurodegenerative diseases remains elusive.

Objective:

This study aimed to assess the usefulness of PICALM expression levels in the blood of patients with AD, Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and geriatric major depressive disorder (MDD) as a diagnostic biomarker.

Methods:

In total, 45, 20, 21, and 19 patients with AD, PD, DLB, and geriatric MDD, respectively, and 54 healthy controls (HCs) were enrolled in the study. Expression data from Gene Expression Omnibus database (GSE97760), (GSE133347) and (GSE98793), (GSE48350), and (GSE144459) were used to validate the ability of biomarkers in the blood of patients with AD, PD, geriatric MDD, and a postmortem human AD brain and animal model of AD (3xTg-AD mouse), respectively.

Results:

PICALM mRNA expression in human blood was significantly increased in patients with AD compared with that in HCs. PICALM mRNA expression and age were negatively correlated only in patients with AD. PICALM mRNA expression in human blood was significantly lower in patients with PD than in HCs. No changes in PICALM mRNA expression were found in patients with DLB and geriatric MDD.

Conclusion:

PICALM mRNA expression in blood was higher in patients with AD, but lower in patients with PD, which suggests that PICALM mRNA expression in human blood may be a useful biomarker for differentiating neurodegenerative diseases and geriatric MDD.

中文翻译：

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神经退行性疾病和老年抑郁症患者血液中 PICALM mRNA 的表达

摘要

背景：

磷脂酰肌醇结合网格蛋白组装蛋白 (PICALM) 是一种经过验证的晚发性阿尔茨海默病 (AD) 遗传风险因素，并与其他神经退行性疾病有关。然而，神经退行性疾病血液中的PICALM表达仍然难以捉摸。

客观的：

本研究旨在评估 AD、帕金森病 (PD)、路易体痴呆 (DLB) 和老年抑郁症 (MDD) 患者血液中 PICALM 表达水平作为诊断生物标志物的有用性。

方法：

总共有 45、20、21 和 19 名 AD、PD、DLB 和老年 MDD 患者以及 54 名健康对照 (HC) 参加了该研究。来自基因表达综合数据库 (GSE97760)、(GSE133347) 和 (GSE98793)、(GSE48350) 和 (GSE144459) 的表达数据用于验证 AD、PD、老年 MDD 和 a分别是死后人类 AD 大脑和 AD 动物模型（3xTg-AD 小鼠）。

结果：

与HCs相比，AD患者人血中PICALM mRNA的表达显着增加。PICALM mRNA 表达和年龄仅在 AD 患者中呈负相关。PD 患者血液中PICALM mRNA 的表达显着低于HC。在DLB 和老年 MDD 患者中未发现PICALM mRNA 表达的变化。

结论：

AD患者血液中PICALM mRNA的表达较高，而PD患者血液中的PICALM mRNA表达较低，这表明人血中PICALM mRNA的表达可能是区分神经退行性疾病和老年MDD的有用生物标志物。