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

We identified DNA methylation signals from multiple tissue types in ALS cfDNA, highlighting diverse tissue involvement in ALS pathology. These findings promote epigenetic cfDNA analysis as a powerful tool for advancing our understanding of neurodegenerative disease.

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Publication Details

Journal
Genome Medicine
Published
2025-10-15
DOI
https://doi.org/10.1186/s13073-025-01542-5
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
0.00

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article

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

M. J. Thompson, Christa Caggiano, Anjali K. Henders, Matteo Pellegrini et al.
Genome Medicine
Amyotrophic Lateral Sclerosis Research
article

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

M. J. Thompson, Christa Caggiano, Anjali K. Henders, Matteo Pellegrini, Fleur C. Garton, Xiaoyu Qian, Shyuan Thieu Ngo, Susan Heggie, Allan F. McRae, Barbara Celona, Marco Morselli, Frederik J. Steyn, Robert D. Henderson, Peter J. Nestor, Pamela McCombe, Shivangi Wani, Noah Zaitlen, Leanne M. Wallace, Naomi R. Wray, Anela Tosevska, Gregory G. Heuer, Kodi Taraszka, Kathryn Thorpe, Gwendolyn English, Caitlin McElligott, Catherine Lomen-Hoerth
article en

Abstract

We identified DNA methylation signals from multiple tissue types in ALS cfDNA, highlighting diverse tissue involvement in ALS pathology. These findings promote epigenetic cfDNA analysis as a powerful tool for advancing our understanding of neurodegenerative disease.

Genome MedicineVol. 17(1)
University of Parma (IT), University of California, Los Angeles (US), The University of Queensland (AU), University of California, San Francisco (US), Royal Brisbane and Women's Hospital (AU), UCLA Health (US), UCLA Medical Center (US), Dana-Farber Cancer Institute (US), Centre for Genomic Regulation (ES), Mater Adult Hospital (AU), Medical University of Vienna (AT), Icahn School of Medicine at Mount Sinai (US)
Motor Neurone Disease Research Institute of Australia, University of California, San Francisco, Medical Research Council, National Health and Medical Research Council
Openalex Percentile: Top 58%
Amyotrophic Lateral Sclerosis Research
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