Detection of Brain-Derived Cell-Free DNA in Plasma Article Swipe
Camilla Pellegrini
,
Francesco Ravaioli
,
Sara De Fanti
,
Chiara Pirazzini
,
Chiara D’Silva
,
Paolo Garagnani
,
Claudio Franceschi
,
Francesca Bonifazi
,
Pier Luigi Zinzani
,
Massimiliano Bonafè
,
Maria Guarino
,
Raffaele Lodi
,
Pietro Cortelli
,
Caterina Tonon
,
Micaela Mitolo
,
Luisa Sambati
,
Luca Morandi
,
Maria Giulia Bacalini
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/diagnostics14222541
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.3390/diagnostics14222541
Background: Neuronal loss is a major pathological feature of neurodegenerative diseases. The analysis of plasma cell-free DNA (cfDNA) is an emerging approach to track cell death events in a minimally invasive way and from inaccessible areas of the body, such as the brain. Previous studies showed that DNA methylation (DNAm) profiles can be used to map the tissue of origin of cfDNA and to identify molecules released from the brain upon cell death. The aim of the present study is to contribute to this research field, presenting the development and validation of an assay for the detection of brain-derived cfDNA (bcfDNA). Methods: To identify CpG sites with brain-specific DNAm, we compared brain and non-brain tissues for their chromatin state profiles and genome-wide DNAm data, available in public datasets. The selected target genomic regions were experimentally validated by bisulfite sequencing on DNA extracted from 44 different autoptic tissues, including multiple brain regions. Sequencing data were analysed to identify brain-specific epihaplotypes. The developed assay was tested in plasma cfDNA from patients with immune effector cell-associated neurotoxicity syndrome (ICANS) following chimeric antigen receptor T (CAR-T) therapy. Results: We validated five genomic regions with brain-specific DNAm (four hypomethylated and one hypermethylated in the brain). DNAm analysis of the selected genomic regions in plasma samples from CAR-T patients revealed higher levels of bcfDNA in participants with ongoing neurotoxicity syndrome. Conclusions: We developed an assay for the analysis of bcfDNA in plasma. The assay is a promising tool for the early detection of neuronal loss in neurodegenerative diseases.
Related Topics
Concepts
Brain Cell
Cell-free fetal DNA
Plasma
DNA
Plasma cell
Chemistry
Computational biology
Biology
Neuroscience
Genetics
Physics
Nuclear physics
Antibody
Fetus
Pregnancy
Prenatal diagnosis
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/diagnostics14222541
- OA Status
- gold
- Cited By
- 1
- References
- 52
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4404327272
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4404327272Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/diagnostics14222541Digital Object Identifier
- Title
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Detection of Brain-Derived Cell-Free DNA in PlasmaWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
-
2024-11-13Full publication date if available
- Authors
-
Camilla Pellegrini, Francesco Ravaioli, Sara De Fanti, Chiara Pirazzini, Chiara D’Silva, Paolo Garagnani, Claudio Franceschi, Francesca Bonifazi, Pier Luigi Zinzani, Massimiliano Bonafè, Maria Guarino, Raffaele Lodi, Pietro Cortelli, Caterina Tonon, Micaela Mitolo, Luisa Sambati, Luca Morandi, Maria Giulia BacaliniList of authors in order
- Landing page
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https://doi.org/10.3390/diagnostics14222541Publisher landing page
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://doi.org/10.3390/diagnostics14222541Direct OA link when available
- Concepts
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Brain Cell, Cell-free fetal DNA, Plasma, DNA, Plasma cell, Chemistry, Computational biology, Biology, Neuroscience, Genetics, Physics, Nuclear physics, Antibody, Fetus, Pregnancy, Prenatal diagnosisTop concepts (fields/topics) attached by OpenAlex
- Cited by
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1Total citation count in OpenAlex
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2025: 1Per-year citation counts (last 5 years)
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52Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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