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Title: | Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy |
Authors: | Sandi, C Al-Mahdawi, S Pook, MA |
Issue Date: | 2013 |
Publisher: | Hindawi Publishing Group |
Citation: | Genetics Research International, 2013: 852080, Feb 2013 |
Abstract: | Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by homozygous expansion of a GAA·TTC trinucleotide repeat within the first intron of the FXN gene, leading to reduced FXN transcription and decreased levels of frataxin protein. Recent advances in FRDA research have revealed the presence of several epigenetic modifications that are either directly or indirectly involved in this FXN gene silencing. Although epigenetic marks may be inherited from one generation to the next, modifications of DNA and histones can be reversed, indicating that they are suitable targets for epigenetic-based therapy. Unlike other trinucleotide repeat disorders, such as Huntington disease, the large expansions of GAA·TTC repeats in FRDA do not produce a change in the frataxin amino acid sequence, but they produce reduced levels of normal frataxin. Therefore, transcriptional reactivation of the FXN gene provides a good therapeutic option. The present paper will initially focus on the epigenetic changes seen in FRDA patients and their role in the silencing of FXN gene and will be concluded by considering the potential epigenetic therapies. |
Description: | Copyright © 2013 Chiranjeevi Sandi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
URI: | http://www.ncbi.nlm.nih.gov/pubmed/23533785 http://bura.brunel.ac.uk/handle/2438/7332 |
DOI: | http://dx.doi.org/10.1155/2013/852080 |
ISSN: | 2090-3154 |
Appears in Collections: | Biological Sciences Publications Community Health and Public Health Dept of Life Sciences Research Papers |
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