Implication of abnormal epigenetic patterns for human diseases.
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.
Santos-Rebouças
C B
CB
Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil. cbs@uerj.br
Pimentel
M M G
MM
D042002:Chromatin Assembly and Disassembly; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D030342:Genetic Diseases, Inborn; D006657:Histones / Q000378:metabolism; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins / Q000235:genetics
D006657:Histones; D063146:Polycomb-Group Proteins; D012097:Repressor Proteins