DNA hypomethylation

DNA hypomethylation denotes a reduction in DNA methylation relative to a baseline, often global across the genome, and refers to a loss of methyl groups at cytosine residues (primarily in CpG dinucleotides)[1][7][8]. This epigenetic alteration is not a specific protein or molecular entity, but a modification state with widespread biological implications. DNA hypomethylation can lead to increased gene expression, chromosomal instability, and is a well-recognized feature in cancer cells, contributing to tumor progression, heterogeneity, and possible reactivation of normally silenced genetic elements[5][7]. It can be induced by genetic, environmental, nutritional, and chemical factors that perturb the function of DNA methyltransferases or related epigenetic machinery[1][2]. Clinically, hypomethylation status is monitored as a biomarker for diagnosis, prognosis, and therapeutic response in oncology, yet DNA hypomethylation itself is not directly targeted by drugs—rather, its upstream modulators (such as DNMTs) are therapeutic targets[1][5].

Other names

Genome-wide DNA hypomethylationGlobal DNA hypomethylationDNA demethylation state

Inhibition of DNA methyltransferases (DNMTs), leading to reduction of DNA methylation; Modulation of TET activity resulting in active DNA demethylation