Friedreich Ataxia: current status and future prospects

Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its...

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Detalles Bibliográficos
Autor principal: Bürk, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383992/
https://www.ncbi.nlm.nih.gov/pubmed/28405347
http://dx.doi.org/10.1186/s40673-017-0062-x
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author Bürk, Katrin
author_facet Bürk, Katrin
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description Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species. This review gives an overview over clinical and genetic aspects of FA and discusses current concepts of frataxin biogenesis and function as well as new therapeutic strategies.
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spelling pubmed-53839922017-04-12 Friedreich Ataxia: current status and future prospects Bürk, Katrin Cerebellum Ataxias Review Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9. Due to epigenetic alterations, frataxin expression is significantly reduced. Frataxin is a mitochondrial protein. Its deficiency leads to mitochondrial iron overload, defective energy supply and generation of reactive oxygen species. This review gives an overview over clinical and genetic aspects of FA and discusses current concepts of frataxin biogenesis and function as well as new therapeutic strategies. BioMed Central 2017-04-07 /pmc/articles/PMC5383992/ /pubmed/28405347 http://dx.doi.org/10.1186/s40673-017-0062-x Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Bürk, Katrin
Friedreich Ataxia: current status and future prospects
title Friedreich Ataxia: current status and future prospects
title_full Friedreich Ataxia: current status and future prospects
title_fullStr Friedreich Ataxia: current status and future prospects
title_full_unstemmed Friedreich Ataxia: current status and future prospects
title_short Friedreich Ataxia: current status and future prospects
title_sort friedreich ataxia: current status and future prospects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383992/
https://www.ncbi.nlm.nih.gov/pubmed/28405347
http://dx.doi.org/10.1186/s40673-017-0062-x
work_keys_str_mv AT burkkatrin friedreichataxiacurrentstatusandfutureprospects

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