NIH-Oxford-Cambridge Scholars Program, Wellcome-MRC Cambridge Stem Cell Institute and Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 1TN, UK.
Altos Labs, Cambridge Institute of Science, Cambridge CB21 6GP, UK.
Brain. 2023 May 2;146(5):1758-1774. doi: 10.1093/brain/awac438.
This article reviews recent developments in the application of cell-free DNA-based liquid biopsies to neurological diseases. Over the past few decades, an explosion of interest in the use of accessible biofluids to identify and track molecular disease has revolutionized the fields of oncology, prenatal medicine and others. More recently, technological advances in signal detection have allowed for informative analysis of biofluids that are typically sparse in cells and other circulating components, such as CSF. In parallel, advancements in epigenetic profiling have allowed for novel applications of liquid biopsies to diseases without characteristic mutational profiles, including many degenerative, autoimmune, inflammatory, ischaemic and infectious disorders. These events have paved the way for a wide array of neurological conditions to benefit from enhanced diagnostic, prognostic, and treatment abilities through the use of liquid biomarkers: a 'liquid biopsy' approach. This review includes an overview of types of liquid biopsy targets with a focus on circulating cell-free DNA, methods used to identify and probe potential liquid biomarkers, and recent applications of such biomarkers to a variety of complex neurological conditions including CNS tumours, stroke, traumatic brain injury, Alzheimer's disease, epilepsy, multiple sclerosis and neuroinfectious disease. Finally, the challenges of translating liquid biopsies to use in clinical neurology settings-and the opportunities for improvement in disease management that such translation may provide-are discussed.
本文综述了无细胞游离 DNA 液体活检在神经疾病中的应用的最新进展。在过去几十年中，人们对利用可获得的生物流体来识别和追踪分子疾病的兴趣大增，这彻底改变了肿瘤学、产前医学等领域。最近，信号检测技术的进步使得能够对通常细胞和其他循环成分（如 CSF）稀少的生物流体进行有意义的分析。与此同时，表观遗传学分析的进展使得液体活检在没有特征性突变谱的疾病中具有了新的应用，包括许多退行性、自身免疫性、炎症性、缺血性和传染性疾病。这些事件为广泛的神经疾病通过使用液体生物标志物（即“液体活检”方法）获得增强的诊断、预后和治疗能力铺平了道路。本文综述了各种类型的液体活检靶标，重点介绍了循环无细胞游离 DNA，以及用于识别和探测潜在液体生物标志物的方法，并介绍了这些生物标志物在各种复杂神经疾病中的最新应用，包括中枢神经系统肿瘤、中风、创伤性脑损伤、阿尔茨海默病、癫痫、多发性硬化症和神经感染性疾病。最后，讨论了将液体活检转化为临床神经病学应用的挑战，以及这种转化可能为疾病管理带来的改善机会。
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