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Updated: May 21, 2026
13:47
Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
Published on: February 24, 2015
Epigenetic biomarkers: A new perspective in laboratory diagnostics
J L García-Giménez1, F Sanchis-Gomar, G Lippi
1CIBERER, The Biomedical Network Research Centre on Rare Diseases. Valencia, Spain. j.luis.garcia@uv.es
Summary
Epigenetic modifications, including DNA methylation and histone changes, are key to gene regulation. New technologies enable their use as biomarkers for diseases like cancer and neurodegenerative disorders.
Area of Science:
- Biomedical Sciences
- Molecular Biology
- Genetics
Background:
- Epigenetics involves DNA and histone modifications regulating gene expression and cellular phenotype.
- Recent discoveries include microRNAs and chromosome organization as epigenetic regulators.
- Technological advancements allow analysis of various epigenetic changes.
Purpose of the Study:
- To review epigenetic modifications as potential biomarkers for diseases.
- To highlight new technologies for epigenetic analysis in clinical settings.
- To discuss histone purification and high-throughput methods for clinical application.
Main Methods:
- Review of current literature on epigenetic modifications and disease biomarkers.
- Discussion of emerging technologies for analyzing epigenetic marks (e.g., DNA methylation, miRNA expression, histone modifications).
- Exploration of methodologies for histone purification and high-throughput epigenetic analysis.
Main Results:
- Epigenetic changes are increasingly recognized as valuable biomarkers for neurodegenerative diseases, complex multifactorial diseases, rare diseases, and cancer.
- New technologies offer sensitive and comprehensive analysis of epigenetic profiles.
- Histone purification and high-throughput screening methods show promise for clinical laboratory integration.
Conclusions:
- Epigenetic biomarkers hold significant potential for disease diagnosis and understanding.
- Advancements in epigenetic technologies are paving the way for their routine use in clinical diagnostics.
- Future research should focus on validating these biomarkers and integrating high-throughput technologies into clinical practice.
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