Epigenetic modifications in trinucleotide repeat diseases

MV Evans-Galea; AJ Hannan; N Carrodus; MB Delatycki; R Saffery

Journal article

Epigenetic modifications in trinucleotide repeat diseases

MV Evans-Galea, AJ Hannan, N Carrodus, MB Delatycki, R Saffery

Trends in Molecular Medicine | Published : 2013

DOI: 10.1016/j.molmed.2013.07.007

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 ..

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University of Melbourne Researchers

Anthony Hannan Author

Martin Delatycki Author

Richard Saffery Author

Grants

Awarded by Australian Research Council

Funding Acknowledgements

The authors are funded by the National Health and Medical Research Council of Australia (Project Grant APP1048795 to M.B.D. and M.V.E-G.; Practitioner Fellowship to M.B.D.; Senior Research Fellowship to R.S.); the Australian Research Council (FT3 Future Fellowship to A.J.H.); and the Victorian Government Operational Infrastructure Support Program.