肌萎缩侧索硬化
DNA甲基化
诊断生物标志物
医学
甲基化
临床意义
分子诊断学
生物信息学
诊断试验
癌症
神经科学
生物
病理
DNA
疾病
内科学
遗传学
基因
基因表达
儿科
作者
Philippe-Pierre Robichaud,Michael Arseneault,Colleen O’Connell,Rodney J. Ouellette,Pier Morin
标识
DOI:10.1016/j.neulet.2021.135813
摘要
DNA methylation has garnered much attention in recent years for its diagnostic potential in multiple conditions including cancer and neurodegenerative diseases. Conversely, advances regarding the potential diagnostic relevance of DNA methylation status have been sparse in the field of amyotrophic lateral sclerosis (ALS) even though patients diagnosed with this condition would significantly benefit from improved molecular assays aimed at furthering the current diagnostic and therapeutic options available. This review will provide an overview of the current diagnostic approaches available for ALS diagnosis and discuss the potential clinical usefulness of DNA methylation. We will also present examples of DNA methylation as a diagnostic tool in various types of cancer and neurodegenerative conditions and expand on how circulating cfDNA methylation may be leveraged for the early detection of ALS. In general, this article will reinforce the importance of cfDNA methylation as diagnostic tools and will further highlight its clinical relevance for persons diagnosed with ALS.
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