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Since the investigation of molecular biological mechanisms was extended to the genomic level and after the sequence of the human genome was established, interest in DNA-based diagnostics has increased tremendously. While most research is currently being devoted to the discovery and clinical application of genetic, proteomic and RNA expression markers, DNA methylation is rapidly emerging as a new level of cellular information with biomarker potential. DNA methylation is involved in the regulation of gene activity. Aberrant DNA methylation has been associated with a variety of human diseases. As such, DNA methylation markers hold a great promise as a diagnostic tool, e.g. in early cancer screening [1]. Methods are available for the genome-wide discovery of methylation markers that differentiate between different types of tissue samples. In contrast to expression markers, DNA methylation markers are accessible at the DNA level, which enables their analysis even in archived paraffin- embedded tissue samples. Methods are available to detect a few copies of aberrantly methylated DNA in a background of a vast excess of normally methylated DNA, which is the prerequisite for assaying methylation markers also in body fluids that are readily accessible in clinical practice.

DNA methylation analysis: a promising diagnostic tool / DNA-Methylierungs-Analyse: ein vielversprechendes diagnostisches Werkzeug