Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Cells. 2021 Apr 27;10(5):1030. doi: 10.3390/cells10051030.
Neurodegenerative diseases are etiologically and clinically heterogeneous conditions, often reflecting a spectrum of disease rather than well-defined disorders. The underlying molecular complexity of these diseases has made the discovery and validation of useful biomarkers challenging. The search of characteristic genetic and transcriptomic indicators for preclinical disease diagnosis, prognosis, or subtyping is an area of ongoing effort and interest. The next generation of biomarker studies holds promise by implementing meaningful longitudinal and multi-modal approaches in large scale biobank and healthcare system scale datasets. This work will only be possible in an open science framework. This review summarizes the current state of genetic and transcriptomic biomarkers in Parkinson's disease, Alzheimer's disease, and amyotrophic lateral sclerosis, providing a comprehensive landscape of recent literature and future directions.
神经退行性疾病在病因学和临床上具有异质性，通常反映了疾病的范围，而不是明确的疾病。这些疾病的潜在分子复杂性使得发现和验证有用的生物标志物具有挑战性。寻找特征性的遗传和转录组指标，用于临床前疾病的诊断、预后或亚型分类，是目前正在努力和关注的领域。通过在大型生物库和医疗系统规模的数据集上实施有意义的纵向和多模态方法，下一代生物标志物研究具有广阔的前景。这一工作只能在开放科学框架下进行。本综述总结了帕金森病、阿尔茨海默病和肌萎缩侧索硬化症的遗传和转录组生物标志物的现状，提供了最新文献和未来方向的全面概述。
