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Implication of abnormal epigenetic patterns for human diseases.

Authors :
Santos-Rebouças CB
Pimentel MM
Source :
European journal of human genetics : EJHG [Eur J Hum Genet] 2007 Jan; Vol. 15 (1), pp. 10-7. Date of Electronic Publication: 2006 Oct 18.
Publication Year :
2007

Abstract

Significant evidences have brought new insights on the mechanisms by which epigenetic machinery proteins regulate gene expression, leading to a redefinition of chromatin regulation in terms of modification of core histones, DNA methylation, RNA-mediated silencing pathways, action of methylation-dependent sensitive insulators and Polycomb/Trithorax group proteins. Consistent with these fundamental aspects, an increasing number of human pathologies have been found to be associated with aberrant epigenetics regulation, including cancer, mental retardation, neurodegenerative symptoms, imprinting disorders, syndromes involving chromosomal instabilities and a great number of human life-threatening diseases. The possibility of reversing epigenetic marks, in contrast to genetic code, may provide new pharmacological targets for emerging therapeutic intervention.

Details

Language :
English
ISSN :
1018-4813
Volume :
15
Issue :
1
Database :
MEDLINE
Journal :
European journal of human genetics : EJHG
Publication Type :
Academic Journal
Accession number :
17047674
Full Text :
https://doi.org/10.1038/sj.ejhg.5201727