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Cell-free DNA: the role in pathophysiology and as a biomarker in kidney diseases
Peter Celec1, Barbora Vlková1, Lucia Lauková1
1Institute of Molecular Biomedicine,Faculty of Medicine,Comenius University,Bratislava,Slovakia.
Insights
Cell-free DNA (cfDNA) is a biomarker for tissue damage and disease. Analysis of cfDNA in bodily fluids aids in diagnosing conditions like cancer, pregnancy complications, and kidney diseases.
Area of Science:
- Biochemistry
- Molecular Biology
- Genetics
Background:
- Cell-free DNA (cfDNA) circulates in body fluids, originating from various sources including blood cells, tumors, fetuses, and transplanted organs.
- cfDNA analysis is crucial for genetic profiling, early detection of graft rejection, and as a non-specific biomarker for tissue damage in critical care.
Purpose of the Study:
- This review discusses the biological characteristics and sources of cfDNA.
- It explores the potential of cfDNA as a biomarker in renal and urinary tract diseases.
- The review also examines the role of cfDNA in the pathogenesis of kidney-related pathologies.
Main Methods:
- Literature review of studies on cfDNA in various body fluids.
- Analysis of cfDNA in plasma and urine for diagnostic and prognostic applications.
- Investigation of cfDNA's involvement in the pathogenesis of kidney diseases.
Main Results:
- Increased cfDNA levels are observed in kidney diseases, such as during hemodialysis and in renal cell carcinoma.
- Urinary cfDNA, despite fragmentation, shows promise as a biomarker for renal injury and tumors.
- Elevated cfDNA is linked to acute kidney injury and implicated in diseases like lupus, sepsis, and pregnancy pathologies.
Conclusions:
- cfDNA holds significant potential as a diagnostic and prognostic biomarker for renal and urinary tract diseases.
- Understanding cfDNA's role in pathogenesis may lead to novel therapeutic strategies.
- Further research is warranted to overcome technical challenges and fully utilize cfDNA's clinical utility.
Abstract:
Cell-free DNA (cfDNA) is present in various body fluids and originates mostly from blood cells. In specific conditions, circulating cfDNA might be derived from tumours, donor organs after transplantation or from the foetus during pregnancy. The analysis of cfDNA is mainly used for genetic analyses of the source tissue -tumour, foetus or for the early detection of graft rejection. It might serve also as a nonspecific biomarker of tissue damage in critical care medicine. In kidney diseases, cfDNA increases during haemodialysis and indicates cell damage. In patients with renal cell carcinoma, cfDNA in plasma and its integrity is studied for monitoring of tumour growth, the effects of chemotherapy and for prognosis. Urinary cfDNA is highly fragmented, but the technical hurdles can now be overcome and urinary cfDNA is being evaluated as a potential biomarker of renal injury and urinary tract tumours. Beyond its diagnostic application, cfDNA might also be involved in the pathogenesis of diseases affecting the kidneys as shown for systemic lupus, sepsis and some pregnancy-related pathologies. Recent data suggest that increased cfDNA is associated with acute kidney injury. In this review, we discuss the biological characteristics, sources of cfDNA, its potential use as a biomarker as well as its role in the pathogenesis of renal and urinary diseases.
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