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Review
. 2010 May;10(4):481-8.
doi: 10.1586/erm.10.17.

DNA methylation as a universal biomarker

Victor V Levenson  1
Affiliations
Review

DNA methylation as a universal biomarker

Victor V Levenson. Expert Rev Mol Diagn. 2010 May.

Abstract

Cell-free circulating DNA carries not only tumor-specific changes in its sequence but also distinctive epigenetic marks, namely DNA methylation, in certain GC-rich fragments. These fragments are usually located within the promoters and first exons of many genes, comprising CpG islands. Analysis of DNA methylation using cell-free circulating DNA can facilitate development of very accurate biomarkers for detection, diagnosis, prediction of response to therapy and prognosis of outcomes. Recent data suggest that benign and inflammatory diseases have very specific methylation patterns within cell-free circulating DNA, which are different from the pattern of a malignant tumor of the same organ. In addition, specific methylation patterns have been detected for cancers of different organs, so a differential diagnosis of site-specific cancer appears feasible. Currently, cancer-related applications dominate the field, although methylation-based biomarkers may also be possible for other diseases, including neurodegenerative and psychiatric disorders.

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Figures

Figure 1
Figure 1
General schema of DNA methylation analysis.
Figure 2
Figure 2
Enrichment of methylated DNA can be achieved by enzymatic degradation or physical separation.
See this image and copyright information in PMC

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