Epigenetic biomarkers: A new perspective in laboratory diagnostics

• Published in: Clinica chimica acta Vol. 413; no. 19-20; pp. 1576 - 1582
• Main Authors: García-Giménez, J.L., Sanchis-Gomar, F., Lippi, G., Mena, S., Ivars, D., Gomez-Cabrera, M.C., Viña, J., Pallardó, F.V.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 09.10.2012
• Subjects: Biomarkers - metabolism; Cancer; DNA Methylation; Epigenesis, Genetic; Epigenomics; Histone; Histones - genetics; Histones - isolation & purification; Histones - metabolism; Humans; MicroRNAs - genetics; MicroRNAs - metabolism; miRNAs; Pathology, Molecular - instrumentation; Pathology, Molecular - methods; Pathology, Molecular - trends; Protein Processing, Post-Translational; Rare disease; Sequence Analysis, DNA; DNA methylation; miRNAs; Histone; Rare disease; Cancer
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/j.cca.2012.05.021

Epigenetics comprises the study of chemical modifications in the DNA and histones that regulates the gene expression or cellular phenotype. However, during the last decade this term has evolved after the elucidation of different mechanisms (microRNAs and nuclear organization of the chromosomes) involved in regulating gene expression. Epigenetics and the new designed technologies capable to analyze epigenetic changes (e.g., methylated DNA, miRNAs expression, post-translational modifications on histones among others) have disclosed an appealing scenario that will offer for the biomedical sciences new biomarkers for the study of neurodegenerative diseases, multifactorial complex diseases, rare diseases and cancer. Moreover, new technologies adapted for epigenetic studies will offer promising applications that in the next years will be common technologies in clinical laboratories. In this review we discuss epigenetic modifications used as possible biomarkers in several diseases. We also present the potential of methodologies to purify histones, and high throughput technologies as candidates to be set in clinical laboratories for their high potential analyzing epigenetic processes. ► We discuss some new technologies and recent applications of epigenetics. ► These new technologies will allow us to discover epigenetic biomarkers. ► Epigenetic biomarkers exhibit good sensitivity and reproducibility. ► They will also help to identify or classify diseases or the efficacy of a drug.