title: Epigenetic modifications in trinucleotide repeat diseases.
abstract: Accumulating evidence supports the important role for epigenetic changes in modulating clinical parameters of complex disorders, including neurodegenerative disease. Several conditions, including fragile X syndrome and Huntington's disease are caused by trinucleotide repeat (TNR) expansions in or near specific genes. Highlighting the link between epigenetic disruption and disease phenotype, recent studies have established significant correlations between clinical features, expansion size, gene expression, the chromatin profile, and DNA methylation in regions surrounding the TNR. Given the debilitating and sometimes fatal consequences of TNR disorders, understanding how an altered epigenetic profile impacts clinical outcome warrants further attention, and could provide key insights for developing novel epigenetic therapies and biomarkers. This review presents the current evidence of epigenetic changes in several TNR diseases.
authors: Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, 3010, Australia. Electronic address: marguerite.galea@mcri.edu.au.
authors: Marguerite V
authors: MV
authors: Evans-Galea
authors: Anthony J
authors: AJ
authors: Hannan
authors: Nissa
authors: N
authors: Carrodus
authors: Martin B
authors: MB
authors: Delatycki
authors: Richard
authors: R
authors: Saffery
mesh_terms: D000818:Animals; D004194:Disease / Q000235:genetics*; D044127:Epigenesis, Genetic; D006801:Humans; D019680:Trinucleotide Repeat Expansion
keywords: DNA expansions; DNA methylation; histone modification; neurodegenerative disease