Bougea Anastasia, Gourzis Philippos
1st Department of Neurology, National and Kapodistrian University of Athens, 15772 Athens, Greece.
1st Department of Psychiatry, University of Patras, 26504 Rio, Greece.
J Clin Med. 2024 Aug 8;13(16):4661. doi: 10.3390/jcm13164661.
(1) Background: Alzheimer's disease (AD) is a worldwide neurodegenerative disorder characterized by the buildup of abnormal proteins in the central nervous system and cognitive decline. Since no radical therapy exists, only symptomatic treatments alleviate symptoms temporarily. In this review, we will explore the latest advancements in precision medicine and biomarkers for AD, including their potential to revolutionize the way we diagnose and treat this devastating condition. (2) Methods: A literature search was performed combining the following Medical Subject Heading (MeSH) terms on PubMed: "Alzheimer's disease", "biomarkers", "APOE", "APP", "GWAS", "cerebrospinal fluid", "polygenic risk score", "Aβ42", "τP-181", " p-tau217", "ptau231", "proteomics", "total tau protein", and "precision medicine" using Boolean operators. (3) Results: Genome-wide association studies (GWAS) have identified numerous genetic variants associated with AD risk, while a transcriptomic analysis has revealed dysregulated gene expression patterns in the brains of individuals with AD. The proteomic and metabolomic profiling of biological fluids, such as blood, urine, and CSF, and neuroimaging biomarkers have also yielded potential biomarkers of AD that could be used for the early diagnosis and monitoring of disease progression. (4) Conclusion: By leveraging a combination of the above biomarkers, novel ultrasensitive immunoassays, mass spectrometry methods, and metabolomics, researchers are making significant strides towards personalized healthcare for individuals with AD.
（1）背景：阿尔茨海默病（AD）是一种全球性神经退行性疾病，其特征是中枢神经系统中异常蛋白质的积累和认知能力下降。由于不存在根治性疗法，只有对症治疗能暂时缓解症状。在本综述中，我们将探讨AD精准医学和生物标志物的最新进展，包括它们在彻底改变我们诊断和治疗这种毁灭性疾病方式方面的潜力。（2）方法：在PubMed上进行文献检索，结合以下医学主题词（MeSH）：“阿尔茨海默病”、“生物标志物”、“载脂蛋白E（APOE）”、“淀粉样前体蛋白（APP）”、“全基因组关联研究（GWAS）”、“脑脊液”、“多基因风险评分”、“β淀粉样蛋白42（Aβ42）”、“tau蛋白-181（τP-181）”、“磷酸化tau蛋白217（p-tau217）”、“磷酸化tau蛋白231（ptau231） ”、“蛋白质组学”、“总tau蛋白”和“精准医学”，使用布尔运算符。（3）结果：全基因组关联研究（GWAS）已鉴定出许多与AD风险相关的基因变异，而转录组分析揭示了AD患者大脑中基因表达模式失调。血液、尿液和脑脊液等生物流体的蛋白质组学和代谢组学分析以及神经影像学生物标志物也产生了可用于AD早期诊断和疾病进展监测的潜在生物标志物。（4）结论：通过利用上述生物标志物、新型超灵敏免疫测定法、质谱方法和代谢组学的组合，研究人员在为AD患者提供个性化医疗方面取得了重大进展。
