Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease
Open accessAbstract
Cell-free mitochondrial DNA (cfmtDNA) is detectable in almost all human body fluids and has been associated with the onset and progression of several complex traits. In-life assessments indicate that reduced cfmtDNA is a feature of neurodegenerative diseases such as Parkinson’s disease, Alzheimer’s disease and multiple sclerosis. However, whether this feature is conserved across all neurodegenerative diseases and how it relates to the neurodegenerative processes remains unclear. In this study, we assessed the levels of ventricular cerebrospinal fluid-cfmtDNA (vCSF-cfmtDNA) in a diverse group of neurodegenerative diseases (NDDs) to determine if the in-life observations of reduced cfmtDNA seen in lumbar CSF translated to the post-mortem ventricular CSF. To investigate further, we compared vCSF-cfmtDNA levels to known protein markers of neurodegeneration, synaptic vesicles and mitochondrial integrity. Our data indicate that reduced vCSF-cfmtDNA is a feature specific to Parkinson’s and appears consistent throughout the disease course. Interestingly, we observed increased vCSF-cfmtDNA in the more neuropathologically severe NDD cases, but no association to protein markers of neurodegeneration, suggesting that vCSF-cfmtDNA release is more complex than mere cellular debris produced following neuronal death. We conclude that vCSF-cfmtDNA is reduced in PD, but not other NDDs, and appears to correlate to pathology. Although its utility as a prognostic biomarker is limited, our data indicate that higher levels of vCSF-cfmtDNA is associated with more severe clinical presentations; suggesting that it is associated with the neurodegenerative process. However, as vCSF-cfmtDNA does not appear to correlate to established indicators of neurodegeneration or indeed indicators of mitochondrial mass, further work to elucidate its exact role is needed.
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Assessing presence of extracellular mitochondria or their fragments by measuring ccf-mtDNA levels could allow on-flight direct estimation of cellular stress to take preventive measures of cumulative damage.
“Assessing the presence of extracellular mitochondria or their fragments by measuring ccf-mtDNA levels could allow on-flight direct estimation of cellular stress to take preventive measures of cumulative damage196,199–206.”
From Key points for the development of antioxidant cocktails to prevent cellular stress and damage caused by reactive oxygen species (ROS) during manned space missions (2021) · cites this paper as [204]
The Methods describe measuring cell-free mtDNA in ventricular cerebrospinal fluid, and the Results report extracellular mitochondria-like structures. But the Discussion says mtDNA levels did not correlate with markers of mitochondrion abundance, while the Abstract says its prognostic utility is limited. The paper does not establish direct estimation of cellular stress, on-flight monitoring, or prevention of cumulative damage. (LLM, conf=0.88)
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- Authors
- Lowes, H., Kurzawa-Akanbi, M., Pyle, A., & Hudson, G.
- Affiliations
- Wellcome Centre for Mitochondrial Research (GB)
- Corresponding author
- Hudson, Gavin
- Venue
- Scientific Reports
- Published
- 2020-09-17
- Volume
- 10
- Issue
- 1
- Pages
- 15253-15253
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC7499424
- OpenAlex
- W3087461601
- Cited by
- 21
- References
- 89
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 4 · 2023: 2 · 2022: 8 · 2021: 3
- FWCI
- 1.41
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- Parkinson's UK (F-1202)
- Wellcome Trust (203105/Z/16/Z)
- Topics
- Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- cell-free mitochondrial DNA, ventricular cerebrospinal fluid, neurodegenerative diseases, Parkinson's disease, Alzheimer's disease, multiple sclerosis, postmortem brain, synaptic vesicles, mitochondrial integrity, biomarkers, disease severity
- MeSH terms
- Cell-Free Nucleic Acids, Cerebrospinal Fluid, DNA, Mitochondrial, Female, Humans, Male, Mitochondria, Biomarkers, Disease Progression, Neurodegenerative Diseases
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