Fluid-based assays and precision medicine of cardiovascular diseases: the ‘hope’ for Pandora’s box?

Fluid-based assays and precision medicine of cardiovascular diseases: the ‘hope’ for Pandora’s box?

Publication date: Oct 14, 2019

Progresses in liquid-based assays may provide novel useful non-invasive indicators of cardiovascular (CV) diseases. By analysing circulating cells or their products in blood, saliva and urine samples, we can investigate molecular changes present at specific time points in each patient allowing sequential monitoring of disease evolution. For example, an increased number of circulating endothelial cells may be a diagnostic biomarker for diabetic nephropathy and heart failure with preserved ejection fraction. The assessment of circulating cell-free DNA (cfDNA) levels may be useful to predict severity of acute myocardial infarction, as well as diagnose heart graft rejection. Remarkably, circulating epigenetic biomarkers, including DNA methylation, histone modifications and non-coding RNAs are key pathogenic determinants of CV diseases representing putative useful biomarkers and drug targets. For example, the unmethylated FAM101A gene may specifically trace cfDNA derived from cardiomyocyte death providing a powerful diagnostic biomarker of apoptosis during ischaemia. Moreover, changes in plasma levels of circulating miR-92 may predict acute coronary syndrome onset in patients with diabetes. Now, network medicine provides a framework to analyse a huge amount of big data by describing a CV disease as a result of a chain of molecular perturbations rather than a single defect (reductionism). We outline advantages and challenges of liquid biopsy with respect to traditional tissue biopsy and summarise the main completed and ongoing clinical trials in CV diseases. Furthermore, we discuss the importance of combining fluid-based assays, big data and network medicine to improve precision medicine and personalised therapy in this field.

Benincasa, G., Mansueto, G., and Napoli, C. Fluid-based assays and precision medicine of cardiovascular diseases: the ‘hope’ for Pandora’s box? 05576. 2019 J Clin Pathol.

Concepts Keywords
Acute Coronary Syndrome Assays big network
Acute Myocardial Infarction Acute myocardial infarction
Apoptosis Medicine
Biomarker Clinical medicine
Biomarkers Branches of biology
Blood Biomarkers
Cardiomyocyte Biopsy
Cardiovascular Biotechnology
Cardiovascular Diseases Cell biology
Clinical Trials Liquid biopsy
Diabetes Circulating free DNA
Diabetic Nephropathy Cardiovascular disease
Ejection Fraction Multiple sclerosis biomarkers
Endothelial Apoptosis
Epigenetic
Evolution
Fluid
Graft Rejection
Heart Failure
Histone
Ischaemia
Methylation
Outline
Pandora
Pathogenic
Perturbations
Plasma
Reductionism
Saliva
Tissue Biopsy
Urine

Semantics

Type Source Name
disease MESH acute coronary syndrome
gene UNIPROT MLXIP
gene UNIPROT MYLIP
gene UNIPROT MARCH8
pathway BSID Apoptosis
disease MESH death
gene UNIPROT RFLNA
pathway BSID Histone Modifications
pathway BSID Histone modifications
disease DOID acute myocardial infarction
disease MESH heart failure
disease MESH diabetic nephropathy
disease MESH cardiovascular diseases

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