Epigenetic profiles of tissue informative CpGs inform ALS disease status and progression.

ABSTRACT:

Background

Cell-free DNA (cfDNA), derived from dying cells, has demonstrated utility across multiple clinical applications. However, its potential in neurodegenerative diseases remains underexplored, with most existing cfDNA technologies tailored to specific disease contexts like cancer or non-invasive prenatal screening.

Methods

To address this gap, we developed a novel approach to characterize epigenetic cfDNA profiles by identifying key regions of DNA methylation that reveal the tissues origins undergoing apoptosis or necrosis. We evaluated this method in the largest cfDNA study of amyotrophic lateral sclerosis (ALS) and other neurological diseases (OND) to date, encompassing two independent cohorts (n = 192) from Australia (UQ N_cases = 48, N_controls

SUBMITTER: Caggiano C 

PROVIDER: S-EPMC12529837 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature