2006/01/30 by D. Rodenhiser · 1 voice · 4 citations
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #Genetics and Neurodevelopmental Disorders #Genetic Syndromes and Imprinting
paper · pdf · doi:10.1503/cmaj.050774
openalex publication_date 2006/01/30 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/31
Epigenetics refers to the study of heritable changes in gene expression that occur without a change in DNA sequence. Research has shown that epigenetic mechanisms provide an "extra" layer of transcriptional control that regulates how genes are expressed. These mechanisms are critical components in the normal development and growth of cells. Epigenetic abnormalities have been found to be causative factors in cancer, genetic disorders and pediatric syndromes as well as contributing factors in autoimmune diseases and aging. In this review, we examine the basic principles of epigenetic mechanisms and their contribution to human health as well as the clinical consequences of epigenetic errors. In addition, we address the use of epigenetic pathways in new approaches to diagnosis and targeted treatments across the clinical spectrum.