Heterochromatin dysregulation in human diseases

J. Appl. Physiol., 2010, doi: 10.1152/japplphysiol.00053.2010 published on 01.04.2010
Journal of Applied Physiology, online article

Heterochromatin is a repressive chromatin state which is characterized by densely packed DNA and low transcriptional activity. Heterochromatin-induced gene silencing is important for mediating developmental transitions, and in addition, it has more global functions in ensuring chromosome segregation and genomic integrity. Here we discuss how altered heterochromatic states can impair normal gene expression patterns leading to the development of different diseases. Over the last years, therapeutic strategies which aim toward resetting the epigenetic state of dysregulated genes have been tested. However, due to the complexity of epigenetic gene regulation, the "first generation drugs" that function globally by inhibiting epigenetic machineries might also introduce severe side effects. Thus, detailed understanding of how repressive chromatin states are established and maintained at specific loci will be fundamental for the development of more selective epigenetic treatment strategies in the future.

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