Epigenetic diseases

Author: B. Horsthemke
Submitted: Saturday 25th of September 2010 08:07:01 AM
Submitted by: egf
Educational levels: expert, qc3



Development proceeds through a set of epigenetic states, which are mitotically stable, but potentially reversible. Chromatin marks are one form epigenetic inheritance. Inappropriate chromatin marks lead to inappropriate expression or repression of genes, change developmental trajectories and result in disease. Aberrant chromatin states (epimutations) have been detected in several recognizable syndromes as well as in cancer. They can occur secondary to a DNA mutation in a cis-acting regulatory element or a trans-acting factor, or as a primary epimutation in the absence of any DNA sequence change. Primary epimutations often occur after fertilization and lead to somatic mosaicism. It has been estimated that the rate of primary epimutations is one or two orders of magnitude greater than somatic DNA mutation. Therefore the contribution of epimutations to human disease is probably underestimated. A well-known group of epigenetic diseases are imprinting diseases. Imprinting is an epigenetic process by which the male and the female germ line mark certain chromosome regions, so that after fertilisation only the maternal or the paternal allele of a gene is expressed. Genomic imprints are erased in primordial germ cells and reset in each generation. Errors in imprint erasure, imprint establishment and imprint maintenance lead to recognizable syndromes. The clinical diagnosis can easily be confirmed by methylation analysis.


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B. Horsthemke. Epigenetic diseases. EUROGENE portal. September 2010. online: http://eurogene.open.ac.uk/content/epigenetic-diseases-0

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