液体活检：肌萎缩侧索硬化症中候选生物标志物的新来源。
Liquid biopsy: a new source of candidate biomarkers in amyotrophic lateral sclerosis.
作者信息
Mendioroz Maite, Martínez-Merino Leyre, Blanco-Luquin Idoia, Urdánoz Amaya, Roldán Miren, Jericó Ivonne
机构信息
Department of Neurology Complejo Hospitalario de Navarra IdiSNA (Navarra Institute for Health Research) Pamplona Spain.
Neuroepigenetics Laboratory- Navarrabiomed Complejo Hospitalario de Navarra (CHN) Public University of Navarre (UPNA) IdiSNA (Navarra Institute for Health Research Pamplona Spain.
出版信息
Ann Clin Transl Neurol. 2018 Apr 16;5(6):763-768. doi: 10.1002/acn3.565. eCollection 2018 Jun.
Noninvasive tests to diagnose and monitor the progression of neurodegenerative disorders have been a challenge for decades. The aim of this study was to explore the feasibility of applying liquid biopsy procedures to patients with a neurodegenerative disease such as amyotrophic lateral sclerosis (ALS). We isolated plasma cell-free DNA (cfDNA) in 20 ALS patients and 20 controls and used cfDNA to identify a novel differentially methylated mark in gene in ALS patients compared to controls. Our findings support the notion that liquid biopsy may be applied to living patients as a source of potential epigenetic biomarkers for neurodegenerative disorders.
几十年来，用于诊断和监测神经退行性疾病进展的非侵入性检测一直是一项挑战。本研究的目的是探讨将液体活检程序应用于肌萎缩侧索硬化症（ALS）等神经退行性疾病患者的可行性。我们从20例ALS患者和20例对照中分离出血浆游离DNA（cfDNA），并使用cfDNA来识别与对照相比ALS患者基因中一种新的差异甲基化标记。我们的研究结果支持这样一种观点，即液体活检可作为神经退行性疾病潜在表观遗传生物标志物的来源应用于活体患者。
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