Liquid biopsy: a new source of candidate biomarkers in amyotrophic lateral sclerosis

Ann Clin Transl Neurol. 2018 Apr 16;5(6):763-768. doi: 10.1002/acn3.565. eCollection 2018 Jun.

Abstract

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 RHBDF2 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.

Grants and funding

This work was funded by PRECIPITA platform (Spanish foundation for science and technology‐FECYT) grant ; “Beca postformación MIR” from CHN‐Navarrabiomed grant .