Please use this identifier to cite or link to this item:
Title: Epigenetic-based therapies for Friedreich ataxia
Authors: Sandi, C
Sandi, M
Virmouni, SA
Al-Mahdawi, S
Pook, MA
Keywords: DNA demethylation;Frataxin;FRDA;Friedreich ataxia;FXN;GAA repeat;HDAC inhibitor;HMTase inhibitor
Issue Date: 2014
Publisher: Frontiers Research Foundation
Citation: Frontiers in Genetics, 5(Jun), 2014
Abstract: Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced frataxin protein expression. Recent studies have shown that epigenetic marks, comprising chemical modifications of DNA and histones, are associated with FXN gene silencing. Such epigenetic marks can be reversed, making them suitable targets for epigenetic-based therapy. Furthermore, since FRDA is caused by insufficient, but functional, frataxin protein, epigenetic-based transcriptional re-activation of the FXN gene is an attractive therapeutic option. In this review we summarize our current understanding of the epigenetic basis of FXN gene silencing and we discuss current epigenetic-based FRDA therapeutic strategies. © 2014 Sandi, Sandi, Anjomani Virmouni, Al-Mahdawi and Pook.
Description: This article has been made available through the Brunel Open Access Publishing Fund.
ISSN: 1664-8021
Appears in Collections:Brunel OA Publishing Fund
Dept of Life Sciences Research Papers

Files in This Item:
File Description SizeFormat 
FullText.pdf1.51 MBAdobe PDFView/Open

Items in BURA are protected by copyright, with all rights reserved, unless otherwise indicated.