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Circulating cell-free DNA as potential diagnostic tools for amyotrophic lateral sclerosis
Philippe-Pierre Robichaud1, Michael Arseneault2, Colleen O'Connell3
1Vitalité 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.
DNA methylation analysis shows promise for diagnosing amyotrophic lateral sclerosis (ALS). This review explores its potential as a molecular diagnostic tool, particularly using cell-free DNA (cfDNA) methylation, to improve early detection and treatment for ALS patients.
Area of Science:
- Epigenetics and Molecular Diagnostics
- Neuroscience and Neurology
Background:
- DNA methylation is a key epigenetic mechanism with established diagnostic utility in cancer and neurodegenerative diseases.
- Diagnostic approaches for amyotrophic lateral sclerosis (ALS) lack sufficient molecular assays, highlighting a critical need for improved diagnostic and therapeutic strategies.
Purpose of the Study:
- To review current diagnostic methods for ALS.
- To discuss the potential clinical utility of DNA methylation analysis in ALS diagnosis.
- To explore the application of circulating cell-free DNA (cfDNA) methylation for early ALS detection.
Main Methods:
- Literature review of current ALS diagnostic approaches.
- Analysis of existing research on DNA methylation in cancer and other neurodegenerative diseases.
- Discussion of cfDNA methylation as a potential biomarker for ALS.
Main Results:
- While DNA methylation is well-studied in other diseases, its diagnostic role in ALS remains underexplored.
- Examples from cancer and neurodegeneration demonstrate the efficacy of DNA methylation as a diagnostic tool.
- Circulating cfDNA methylation presents a promising avenue for non-invasive, early detection of ALS.
Conclusions:
- DNA methylation, especially cfDNA methylation, holds significant potential as a valuable diagnostic biomarker for amyotrophic lateral sclerosis (ALS).
- Leveraging cfDNA methylation could enhance early detection, improve diagnostic accuracy, and inform therapeutic interventions for ALS patients.
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