DNA methylation 40 years later: Its role in human health and disease

Maria Irene Scarano, Maria Strazzullo, Maria Rosaria Matarazzo, Maurizio D'Esposito

Research output: Contribution to journalArticlepeer-review


A long path, initiated more than 40 years ago, has led to a deeper understanding of the complexity of gene regulation in eukaryotic genomes. In addition to genetic mechanisms, the imbalance in the epigenetic control of gene expression may profoundly alter the finely tuned machinery leading to gene regulation. Here, we review the impact of the studies on DNA methylation, the "primadonna" in the epigenetic scenario, on the understanding of basic phenomena, such as X inactivation and genomic imprinting. The effect of deregulation of DNA methylation on human health, will be also discussed. Finally, an attempt to predict future directions of this rapidly evolving field has been proposed, with the certainty that, fortunately, science is always better than predictions.

Original languageEnglish
Pages (from-to)21-35
Number of pages15
JournalJournal of Cellular Physiology
Issue number1
Publication statusPublished - Jul 2005

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Cell Biology
  • Physiology


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