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阿尔茨海默病早期诊断的表观遗传学外周生物标志物。

Epigenetic Peripheral Biomarkers for Early Diagnosis of Alzheimer's Disease.

机构信息

School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.

Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, 56126 Pisa, Italy.

出版信息

Genes (Basel). 2022 Jul 22;13(8):1308. doi: 10.3390/genes13081308.

Abstract

Alzheimer's disease (AD) is a progressive neurodegenerative disorder and represents the leading cause of cognitive impairment and dementia in older individuals throughout the world. The main hallmarks of AD include brain atrophy, extracellular deposition of insoluble amyloid-β (Aβ) plaques, and the intracellular aggregation of protein tau in neurofibrillary tangles. These pathological modifications start many years prior to clinical manifestations of disease and the of AD progresses along a from preclinical to clinical phases. Therefore, identifying specific biomarkers for detecting AD at early stages greatly improves clinical management. However, stable and non-invasive biomarkers are not currently available for the early detection of the disease. In the search for more reliable biomarkers, epigenetic mechanisms, able to mediate the interaction between the genome and the environment, are emerging as important players in AD pathogenesis. Herein, we discuss altered epigenetic signatures in blood as potential peripheral biomarkers for the early detection of AD in order to help diagnosis and improve therapy.

摘要

阿尔茨海默病(AD)是一种进行性神经退行性疾病,是全球老年人认知障碍和痴呆的主要病因。AD 的主要特征包括脑萎缩、细胞外不溶性β淀粉样蛋白(Aβ)斑块沉积,以及神经纤维缠结中蛋白 tau 的细胞内聚集。这些病理改变早在疾病临床症状出现之前就已经开始,AD 的进展沿着从临床前到临床的阶段进行。因此,确定用于在早期检测 AD 的特定生物标志物可极大地改善临床管理。然而,目前尚无用于早期检测疾病的稳定且非侵入性的生物标志物。在寻找更可靠的生物标志物的过程中,能够介导基因组与环境之间相互作用的表观遗传机制,正在成为 AD 发病机制中的重要参与者。在此,我们讨论了血液中改变的表观遗传特征,作为早期检测 AD 的潜在外周生物标志物,以帮助诊断和改善治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/995f/9332601/7914262942cc/genes-13-01308-g001.jpg

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