DNA methylation and demethylation is part of the essential biological processes regulating
gene expression in normal cell development. Abnormal methylation status of specific genes and their
irregularly translated proteins are normally associated with certain kinds of diseases or cancer. The
rapid development of innovative DNA methylation mapping techniques provides a better understanding
of DNA methylation pattern and its mechanisms in the human genome and its correlation with
numerous diseases. These new techniques can lead us to develop new epigenetic medications, such as
DNA methyltransferase inhibitors. As part of the approaches to probe DNA methylation and evaluate
the effects of epigenetic therapy, mass spectrometry has been taking an important role in the
identification, validation, and quantification of DNA methylation and demethylation. In this review,
we will briefly summarize the current breadth of knowledge on the topic of DNA methylation and its
occurrence in diseases, DNA methylation drugs, and mass spectrometry based approaches used to
study DNA methylation.
Keywords: DNA methylation, mass spectrometry, cancer, DNA methyltransferase inhibitor (DNMTi) drugs.
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