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Detection of Brain-Derived Cell-Free DNA in Plasma
Camilla Pellegrini1, Francesco Ravaioli1, Sara De Fanti1
1IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Diagnostics (Basel, Switzerland)
|November 27, 2024
Summary
Researchers developed a new assay to detect brain-derived cell-free DNA (bcfDNA) in plasma. This method shows promise for early detection of neuronal loss in neurodegenerative diseases.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Neuronal loss is a key feature of neurodegenerative diseases.
- Plasma cell-free DNA (cfDNA) analysis offers a minimally invasive method to track cell death, including from the brain.
- DNA methylation (DNAm) profiles can identify cfDNA tissue of origin.
Purpose of the Study:
- To develop and validate an assay for detecting brain-derived cfDNA (bcfDNA) in plasma.
- To identify brain-specific DNA methylation markers for bcfDNA tracking.
- To assess the utility of bcfDNA detection in neurotoxicity conditions.
Main Methods:
- Comparative analysis of brain and non-brain tissue DNA methylation (DNAm) and chromatin state data.
- Identification and experimental validation of brain-specific CpG sites using bisulfite sequencing.
- Testing the developed bcfDNA assay on plasma cfDNA from patients undergoing CAR-T therapy for ICANS.
Main Results:
- Five genomic regions with brain-specific DNAm patterns were validated.
- The assay detected elevated bcfDNA levels in CAR-T patients experiencing neurotoxicity syndrome (ICANS).
Conclusions:
- A novel assay for analyzing bcfDNA in plasma has been successfully developed and validated.
- This assay represents a promising tool for the early diagnosis of neuronal loss in neurodegenerative diseases.
