Cell-free DNA (cfDNA) is a widely used noninvasive biomarker for diagnosis and prognosis of multiple disease states. Emerging evidence suggests that cfDNA might not just be passive waste products of cell death but could have a physiological and pathological function in inflammation and autoimmunity. The balance of cfDNA generation and clearance may thus be vital in health and disease. In particular, plasma nuclease activity has been linked to multiple pathologies including cancer and systemic lupus erythematosus (SLE) and associated with profound changes in the nonrandom fragmentation of cfDNA. Lastly, in this review, we explore the effects of DNA fragmentation factor B (DFFB), DNASE1L3, and DNASE1 on cfDNA levels and their fragmentomic profiles, and what these recent insights reveal about the biology of cfDNA.
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http://dx.doi.org/10.1016/j.tig.2021.04.005 | DOI Listing |
JCO Glob Oncol
January 2025
University of Oxford, Oxford, United Kingdom.
Purpose: Epstein-Barr virus (EBV)-positive Burkitt lymphoma (BL) affects children in sub-Saharan Africa, but diagnosis via tissue biopsy is challenging. We explored a liquid biopsy approach using targeted next-generation sequencing to detect the -immunoglobulin (-Ig) translocation and EBV DNA, assessing its potential for minimally invasive BL diagnosis.
Materials And Methods: The panel included targets for the characteristic -Ig translocation, mutations in intron 1 of , mutations in exon 2 of , and three EBV genes: EBV-encoded RNA (EBER)1, EBER2, and EBV nuclear antigen 2.
PLoS One
January 2025
Department of Obstetrics and Gynaecology, Erasmus Medical Centre Rotterdam, Rotterdam, The Netherlands.
Introduction: Placental DNA methylation differences have been associated with timing in gestation and pregnancy complications. Maternal cell-free DNA (cfDNA) partly originates from the placenta and could enable the minimally invasive study of placental DNA methylation dynamics. We will for the first time longitudinally investigate cfDNA methylation during pregnancy by using Methylated DNA Sequencing (MeD-seq), which is compatible with low cfDNA levels and has an extensive genome-wide coverage.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Bologna, Italy.
Background: Cognitive decline in Alzheimer's disease (AD) continuum is knowingly associated with degenerative neurobiological features; however, reliable markers for the early detection of the preclinical stages of AD are not fully established. The main goal of this study was to track ongoing brain neurodegeneration across the AD continuum by combining neuropsychological data, brain MRI features, and plasmatic - brain-derived circulating cell-free DNA (b-cfDNA) biomarkers.
Method: A total of 91 participants were included in this study including 28 healthy controls (HC) (mean age 66.
J Transplant
December 2024
Medical College of Georgia, Augusta University Hospital and Medical Center, 1120 15th Street, Augusta AD 3401, Georgia.
Donor-derived cell-free DNA (dd-cfDNA) in the peripheral blood of allograft recipients has shown to early identify allograft injury. In this study, we assessed the factors that influence the amount of circulating dd-cfDNA during the first month postkidney transplant as well as its longitudinal trend. A consecutive series of 98 adult kidney transplant recipients at a single center between July 2018 and January 2020 were included in this study.
View Article and Find Full Text PDFNat Commun
January 2025
Oxford Molecular Diagnostics Centre, Department of Oncology, University of Oxford, Oxford, UK.
The analysis of circulating tumour DNA (ctDNA) through minimally invasive liquid biopsies is promising for early multi-cancer detection and monitoring minimal residual disease. Most existing methods focus on targeted deep sequencing, but few integrate multiple data modalities. Here, we develop a methodology for ctDNA detection using deep (80x) whole-genome TET-Assisted Pyridine Borane Sequencing (TAPS), a less destructive approach than bisulphite sequencing, which permits the simultaneous analysis of genomic and methylomic data.
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