Epigenetics in Friedreich's Ataxia : Challenges and Opportunities for Therapy
Joint Authors
al-Mahdawi, Sahar
Pook, Mark A.
Sandi, Chiranjeevi
Source
Genetics Research International
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-12, 12 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-02-19
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Sandi, Chiranjeevi& al-Mahdawi, Sahar& Pook, Mark A.. 2013. Epigenetics in Friedreich's Ataxia : Challenges and Opportunities for Therapy. Genetics Research International،Vol. 2013, no. 2013, pp.1-12.
https://search.emarefa.net/detail/BIM-503382
Modern Language Association (MLA)
Sandi, Chiranjeevi…[et al.]. Epigenetics in Friedreich's Ataxia : Challenges and Opportunities for Therapy. Genetics Research International No. 2013 (2013), pp.1-12.
https://search.emarefa.net/detail/BIM-503382
American Medical Association (AMA)
Sandi, Chiranjeevi& al-Mahdawi, Sahar& Pook, Mark A.. Epigenetics in Friedreich's Ataxia : Challenges and Opportunities for Therapy. Genetics Research International. 2013. Vol. 2013, no. 2013, pp.1-12.
https://search.emarefa.net/detail/BIM-503382
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-503382