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Targeting the gene in Friedreich ataxia.
Biochimie. 2008 Aug; 90(8):1131-9.B

Abstract

Pathological expansions of GAA repeats in the first intron of the frataxin gene cause most cases of Friedreich ataxia, a progressively debilitating neurodegenerative disease. The disease is inherited in an autosomal recessive manner and the GAA repeats are suspected to form unusual non B-DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein, frataxin. Recent work has shown that GAA repeats induce heterochromatin formation and silencing of the frataxin gene locus. Frataxin plays a crucial role in iron metabolism and detoxification and interacts with electron transport chain proteins. Clinical trials are currently underway to examine the efficacy of antioxidants in the treatment of Friedreich ataxia, but therapeutics designed to increase frataxin message levels are still in the developmental stages. This review will focus on the progress of potential treatment strategies for Friedreich ataxia that target the GAA expanded gene and seek to increase the level of frataxin message and protein.

Authors+Show Affiliations

Department of Biochemistry, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216-4505, USA. mhebert@biochem.umsmed.edu

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

18206656

Citation

Hebert, Michael D.. "Targeting the Gene in Friedreich Ataxia." Biochimie, vol. 90, no. 8, 2008, pp. 1131-9.
Hebert MD. Targeting the gene in Friedreich ataxia. Biochimie. 2008;90(8):1131-9.
Hebert, M. D. (2008). Targeting the gene in Friedreich ataxia. Biochimie, 90(8), 1131-9. https://doi.org/10.1016/j.biochi.2007.12.005
Hebert MD. Targeting the Gene in Friedreich Ataxia. Biochimie. 2008;90(8):1131-9. PubMed PMID: 18206656.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Targeting the gene in Friedreich ataxia. A1 - Hebert,Michael D, Y1 - 2007/12/28/ PY - 2007/11/30/received PY - 2007/12/14/accepted PY - 2008/1/22/pubmed PY - 2008/10/9/medline PY - 2008/1/22/entrez SP - 1131 EP - 9 JF - Biochimie JO - Biochimie VL - 90 IS - 8 N2 - Pathological expansions of GAA repeats in the first intron of the frataxin gene cause most cases of Friedreich ataxia, a progressively debilitating neurodegenerative disease. The disease is inherited in an autosomal recessive manner and the GAA repeats are suspected to form unusual non B-DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein, frataxin. Recent work has shown that GAA repeats induce heterochromatin formation and silencing of the frataxin gene locus. Frataxin plays a crucial role in iron metabolism and detoxification and interacts with electron transport chain proteins. Clinical trials are currently underway to examine the efficacy of antioxidants in the treatment of Friedreich ataxia, but therapeutics designed to increase frataxin message levels are still in the developmental stages. This review will focus on the progress of potential treatment strategies for Friedreich ataxia that target the GAA expanded gene and seek to increase the level of frataxin message and protein. SN - 0300-9084 UR - https://www.unboundmedicine.com/medline/citation/18206656/Targeting_the_gene_in_Friedreich_ataxia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0300-9084(07)00343-4 DB - PRIME DP - Unbound Medicine ER -