Liquid biopsy: a new source of candidate biomarkers in amyotrophic lateral sclerosis

Mendioroz, Maite; Martínez-Merino, Leyre; Blanco‐Luquin, Idoia; Urdánoz, Amaya; Roldán, Miren; Jericó, Ivonne

doi:10.1002/acn3.565

Cited by 17 publications

(11 citation statements)

References 25 publications

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“…In line with this, Olsen et al ( 2016b ) demonstrated increased demethylation of the MOG gene in sera of active multiple sclerosis patients. In amyotrophic lateral sclerosis patients, plasma cfDNA methylation levels of the RHBDF promoter were increased, relative to healthy controls (Mendioroz et al, 2018 ). Lastly, Alzheimer’s patients have been shown to have higher levels of LHX2 methylation in plasma-extracted cfDNA (Pai et al, 2019 ).…”

Section: Brain-derived Cfdna In Neurodegenerationmentioning

confidence: 99%

The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker

Martins-Ferreira

Leal

Costa

2022

Front. Cell. Neurosci.

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Circulating cell-free DNA (cfDNA) are highly degraded DNA fragments shed into the bloodstream. Apoptosis is likely to be the main source of cfDNA due to the matching sizes of cfDNA and apoptotic DNA cleavage fragments. The study of cfDNA in liquid biopsies has served clinical research greatly. Genetic analysis of these circulating fragments has been used in non-invasive prenatal testing, detection of graft rejection in organ transplants, and cancer detection and monitoring. cfDNA sequencing is, however, of limited value in settings in which genetic association is not well-established, such as most neurodegenerative diseases.Recent studies have taken advantage of the cell-type specificity of DNA methylation to determine the tissue of origin, thus detecting ongoing cell death taking place in specific body compartments. Such an approach is yet to be developed in the context of epilepsy research. In this article, we review the different approaches that have been used to monitor cell-type specific death through DNA methylation analysis, and recent data detecting neuronal death in neuropathological settings. We focus on the potential relevance of these tools in focal epilepsies, like Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS), characterized by severe neuronal loss. We speculate on the potential relevance of cfDNA methylation screening for the detection of neuronal cell death in individuals with high risk of epileptogenesis that would benefit from early diagnosis and consequent early treatment.

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Section: Brain-derived Cfdna In Neurodegenerationmentioning

confidence: 99%

The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker

Martins-Ferreira

Leal

Costa

2022

Front. Cell. Neurosci.

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“…Rhomboid 5 Homolog 2 (RHBDF2) was found to be differentially methylated in the central nervous system (CNS) in Alzheimer's disease (De Jager et al, 2014). In addition, a differentially methylated region located in the promoter-enhancer region of the RHBDF2 gene was identified in amyotrophic lateral sclerosis (ALS) patients in ccfDNA in the plasma (Mendioroz et al, 2018). Thus, liquid biopsy may be applied to living patients as a source of potential epigenetic biomarkers for neurodegenerative disorders.…”

Section: Ccfnas In Diagnosis Progression and Treatment Of Neurologimentioning

confidence: 99%

Circulating Cell-Free Nucleic Acids as Epigenetic Biomarkers in Precision Medicine

et al. 2020

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The circulating cell-free nucleic acids (ccfNAs) are a mixture of single-or doublestranded nucleic acids, released into the blood plasma/serum by different tissues via apoptosis, necrosis, and secretions. Under healthy conditions, ccfNAs originate from the hematopoietic system, whereas under various clinical scenarios, the concomitant tissues release ccfNAs into the bloodstream. These ccfNAs include DNA, RNA, microRNA (miRNA), long non-coding RNA (lncRNA), fetal DNA/RNA, and mitochondrial DNA/RNA, and act as potential biomarkers in various clinical conditions. These are associated with different epigenetic modifications, which show disease-related variations and so finding their role as epigenetic biomarkers in clinical settings. This field has recently emerged as the latest advance in precision medicine because of its clinical relevance in diagnostic, prognostic, and predictive values. DNA methylation detected in ccfDNA has been widely used in personalized clinical diagnosis; furthermore, there is also the emerging role of ccfRNAs like miRNA and lncRNA as epigenetic biomarkers. This review focuses on the novel approaches for exploring ccfNAs as epigenetic biomarkers in personalized clinical diagnosis and prognosis, their potential as therapeutic targets and disease progression monitors, and reveals the tremendous potential that epigenetic biomarkers present to improve precision medicine. We explore the latest techniques for both quantitative and qualitative detection of epigenetic modifications in ccfNAs. The data on epigenetic modifications on ccfNAs are complex and often milieu-specific posing challenges for its understanding. Artificial intelligence and deep networks are the novel approaches for decoding complex data and providing insight into the decision-making in precision medicine.

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“…In addition, the risk of amyotrophic lateral sclerosis may also be modulated by environmental factors ( 82 ). Changes in DNA methylation have been reported in the blood, CSF, and CNS of amyotrophic lateral sclerosis patients ( 82 , 83 ). Furthermore, differential methylation of the RHBDF gene in plasma cfDNA of amyotrophic lateral sclerosis patients was found compared with healthy volunteers ( 83 ).…”

Section: Cnas In the Plasma And Serum In Neurological Disordersmentioning

confidence: 99%

“…Changes in DNA methylation have been reported in the blood, CSF, and CNS of amyotrophic lateral sclerosis patients ( 82 , 83 ). Furthermore, differential methylation of the RHBDF gene in plasma cfDNA of amyotrophic lateral sclerosis patients was found compared with healthy volunteers ( 83 ). Although cfDNA from plasma and serum has not been widely studied in amyotrophic lateral sclerosis, it has great potential because this disease causes cell death and damage to the BBB ( 14 ).…”

Section: Cnas In the Plasma And Serum In Neurological Disordersmentioning

confidence: 99%

Circulating nucleic acids in the plasma and serum as potential biomarkers in neurological disorders

Bruno

Donatti

Martin

et al. 2020

Braz J Med Biol Res

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Neurological diseases are responsible for approximately 6.8 million deaths every year. They affect up to 1 billion people worldwide and cause significant disability and reduced quality of life. In most neurological disorders, the diagnosis can be challenging; it frequently requires long-term investigation. Thus, the discovery of better diagnostic methods to help in the accurate and fast diagnosis of neurological disorders is crucial. Circulating nucleic acids (CNAs) are defined as any type of DNA or RNA that is present in body biofluids. They can be found within extracellular vesicles or as cell-free DNA and RNA. Currently, CNAs are being explored as potential biomarkers for diseases because they can be obtained using non-invasive methods and may reflect unique characteristics of the biological processes involved in several diseases. CNAs can be especially useful as biomarkers for conditions that involve organs or structures that are difficult to assess, such as the central nervous system. This review presents a critical assessment of the most current literature about the use of plasma and serum CNAs as biomarkers for several aspects of neurological disorders: defining a diagnosis, establishing a prognosis, and monitoring the disease progression and response to therapy. We explored the biological origin, types, and general mechanisms involved in the generation of CNAs in physiological and pathological processes, with specific attention to neurological disorders. In addition, we present some of the future applications of CNAs as non-invasive biomarkers for these diseases.

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Liquid biopsy: a new source of candidate biomarkers in amyotrophic lateral sclerosis

Cited by 17 publications

References 25 publications

The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker

The Potential of Circulating Cell-Free DNA Methylation as an Epilepsy Biomarker

Circulating Cell-Free Nucleic Acids as Epigenetic Biomarkers in Precision Medicine

Circulating nucleic acids in the plasma and serum as potential biomarkers in neurological disorders

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