Cellular and Molecular Life Sciences

, Volume 66, Issue 14, pp 2249-2261

First online:

DNA hypomethylation in the origin and pathogenesis of human diseases

  • Igor P. PogribnyAffiliated withDivision of Biochemical Toxicology, National Center for Toxicological Research Email author 
  • , Frederick A. BelandAffiliated withDivision of Biochemical Toxicology, National Center for Toxicological Research

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The pathogenesis of any given human disease is a complex multifactorial process characterized by many biologically significant and interdependent alterations. One of these changes, specific to a wide range of human pathologies, is DNA hypomethylation. DNA hypomethylation signifies one of the major DNA methylation states that refers to a relative decrease from the “normal” methylation level. It is clear that disease by itself can induce hypomethylation of DNA; however, a decrease in DNA methylation can also have an impact on the predisposition to pathological states and disease development. This review presents evidence suggesting the involvement of DNA hypomethylation in the pathogenesis of several major human pathologies, including cancer, atherosclerosis, Alzheimer’s disease, and psychiatric disorders.


DNA hypomethylation G-specific hypomethylation Cancer Atherosclerosis Alzheimer’s disease Psychiatric disorders