循环游离 DNA 作为肌萎缩侧索硬化症的潜在诊断工具。

Circulating cell-free DNA as potential diagnostic tools for amyotrophic lateral sclerosis.

机构信息

Vitalité Health Network, Dr. Georges-L.-Dumont University Hospital Centre, Department of Genetic Services, 330 Université Ave, Moncton, New Brunswick, E1C 2Z3, Canada; Atlantic Cancer Research Institute, Pavillon Hôtel-Dieu, 35 Providence Street, Moncton, New Brunswick, E1C 8X3, Canada; Department of Chemistry and Biochemistry, Université de Moncton, 18 Antonine-Maillet Avenue, Moncton, New Brunswick, E1A 3E9, Canada.

Department of Chemistry and Biochemistry, Université de Moncton, 18 Antonine-Maillet Avenue, Moncton, New Brunswick, E1A 3E9, Canada.

出版信息

Neurosci Lett. 2021 Apr 17;750:135813. doi: 10.1016/j.neulet.2021.135813. Epub 2021 Mar 8.

DOI:10.1016/j.neulet.2021.135813

PMID:33705931

Abstract

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.

摘要

近年来，DNA 甲基化因其在多种疾病（包括癌症和神经退行性疾病）中的诊断潜力而备受关注。相反，即使患有这种疾病的患者将从旨在进一步改善当前诊断和治疗选择的分子检测中受益，但是在肌萎缩侧索硬化症（ALS）领域，关于 DNA 甲基化状态潜在诊断相关性的进展却很少。本综述将概述目前用于 ALS 诊断的诊断方法，并讨论 DNA 甲基化的潜在临床意义。我们还将介绍 DNA 甲基化为各种类型的癌症和神经退行性疾病的诊断工具的示例，并扩展循环 cfDNA 甲基化如何用于 ALS 的早期检测。一般来说，本文将强调 cfDNA 甲基化作为诊断工具的重要性，并进一步强调其对诊断为 ALS 的患者的临床相关性。