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.
journal_name
Trends Mol Medjournal_title
Trends in molecular medicineauthors
Evans-Galea MV,Hannan AJ,Carrodus N,Delatycki MB,Saffery Rdoi
10.1016/j.molmed.2013.07.007subject
Has Abstractpub_date
2013-11-01 00:00:00pages
655-63issue
11eissn
1471-4914issn
1471-499Xpii
S1471-4914(13)00128-7journal_volume
19pub_type
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