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Gene-based approaches toward Friedreich ataxia therapeutics.
Cell Mol Life Sci. 2007 Dec; 64(23):3034-43.CM

Abstract

Friedreich ataxia is an autosomal recessive trinucleotide-repeat disease caused by expanded GAA repeats in the first intron of the FRDA gene. These GAA repeats are suspected to form unusual non-B DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein, frataxin. GAA repeats also 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. There is no effective therapy for Friedreich ataxia, but antioxidant therapy has shown promise and is currently in clinical trials. In this review we focus on the mechanisms by which expanded GAA repeats reduce transcription and discuss how these findings have lead to gene-based approaches that may be effective in treating Friedreich ataxia.

Authors+Show Affiliations

Department of Biochemistry, 2500 North State Street, The University of Mississippi Medical Center, Jackson, Mississippi 39216-4505, USA. mhebert@biochem.umsmed.eduNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

17828464

Citation

Hebert, M D., and A A. Whittom. "Gene-based Approaches Toward Friedreich Ataxia Therapeutics." Cellular and Molecular Life Sciences : CMLS, vol. 64, no. 23, 2007, pp. 3034-43.
Hebert MD, Whittom AA. Gene-based approaches toward Friedreich ataxia therapeutics. Cell Mol Life Sci. 2007;64(23):3034-43.
Hebert, M. D., & Whittom, A. A. (2007). Gene-based approaches toward Friedreich ataxia therapeutics. Cellular and Molecular Life Sciences : CMLS, 64(23), 3034-43.
Hebert MD, Whittom AA. Gene-based Approaches Toward Friedreich Ataxia Therapeutics. Cell Mol Life Sci. 2007;64(23):3034-43. PubMed PMID: 17828464.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gene-based approaches toward Friedreich ataxia therapeutics. AU - Hebert,M D, AU - Whittom,A A, PY - 2007/9/11/pubmed PY - 2008/2/6/medline PY - 2007/9/11/entrez SP - 3034 EP - 43 JF - Cellular and molecular life sciences : CMLS JO - Cell Mol Life Sci VL - 64 IS - 23 N2 - Friedreich ataxia is an autosomal recessive trinucleotide-repeat disease caused by expanded GAA repeats in the first intron of the FRDA gene. These GAA repeats are suspected to form unusual non-B DNA conformations that decrease transcription and subsequently reduce levels of the encoded protein, frataxin. GAA repeats also 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. There is no effective therapy for Friedreich ataxia, but antioxidant therapy has shown promise and is currently in clinical trials. In this review we focus on the mechanisms by which expanded GAA repeats reduce transcription and discuss how these findings have lead to gene-based approaches that may be effective in treating Friedreich ataxia. SN - 1420-682X UR - https://www.unboundmedicine.com/medline/citation/17828464/Gene_based_approaches_toward_Friedreich_ataxia_therapeutics_ DB - PRIME DP - Unbound Medicine ER -