Epigenetic modifications in trinucleotide repeat diseases

Marguerite V. Evans-Galea; Anthony J. Hannan; Nissa Carrodus; Martin B. Delatycki; Richard Saffery

doi:10.1016/j.molmed.2013.07.007

Epigenetic modifications in trinucleotide repeat diseases

Marguerite V. Evans-Galea^*, Anthony J. Hannan, Nissa Carrodus, Martin B. Delatycki, Richard Saffery

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

40 Citations (Scopus)

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.

Original language	English
Pages (from-to)	655-663
Number of pages	9
Journal	Trends in Molecular Medicine
Volume	19
Issue number	11
DOIs	https://doi.org/10.1016/j.molmed.2013.07.007
Publication status	Published - Nov 2013
Externally published	Yes

Keywords

DNA expansions
DNA methylation
Histone modification
Neurodegenerative disease

Access to Document

10.1016/j.molmed.2013.07.007

Cite this

@article{f5f917c49880488981cf30e484f12ab8,

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.",

keywords = "DNA expansions, DNA methylation, Histone modification, Neurodegenerative disease",

author = "Evans-Galea, \{Marguerite V.\} and Hannan, \{Anthony J.\} and Nissa Carrodus and Delatycki, \{Martin B.\} and Richard Saffery",

year = "2013",

month = nov,

doi = "10.1016/j.molmed.2013.07.007",

language = "English",

volume = "19",

pages = "655--663",

journal = "Trends in Molecular Medicine",

issn = "1471-4914",

publisher = "Elsevier",

number = "11",

}

TY - JOUR

T1 - Epigenetic modifications in trinucleotide repeat diseases

AU - Evans-Galea, Marguerite V.

AU - Hannan, Anthony J.

AU - Carrodus, Nissa

AU - Delatycki, Martin B.

AU - Saffery, Richard

PY - 2013/11

Y1 - 2013/11

N2 - 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.

AB - 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.

KW - DNA expansions

KW - DNA methylation

KW - Histone modification

KW - Neurodegenerative disease

UR - https://www.scopus.com/pages/publications/84886947579

U2 - 10.1016/j.molmed.2013.07.007

DO - 10.1016/j.molmed.2013.07.007

M3 - Review article

C2 - 23953480

AN - SCOPUS:84886947579

SN - 1471-4914

VL - 19

SP - 655

EP - 663

JO - Trends in Molecular Medicine

JF - Trends in Molecular Medicine

IS - 11

ER -

Epigenetic modifications in trinucleotide repeat diseases

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this