Epigenetics influencing human diseases

Epigenetic abnormalities such as aberrant DNA methylation, histone modifications, or RNA silencing are found in numerous human diseases. Gene mutations that alter the epigenetic profile may also cause pathologies, which can be inherited or acquired somatically.


Throughout life, DNA accessibility is epigenetically regulated. In early embryonic stages, histone modifications and demethylation occur in the paternal genome. The maternal genome is also demethylated, followed by embryonic re-methylation, which contributes to the growing embryo's epigenetic profile. For effective gene control, the newly established epigenetic profile must be maintained. Any maintenance error can cause congenital problems and put people at risk for acquired diseases.


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