Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?

Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Ma...

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Autores: Alsina Obiols, David, Purroy Lledós, Rosa, Ros Salvador, Joaquim, Tamarit Sumalla, Jordi
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2018
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10459.1/65008
Acceso en línea:https://doi.org/10.3390/ph11030089
http://hdl.handle.net/10459.1/65008
Access Level:acceso abierto
Palabra clave:Iron-sulfur
Friedreich Ataxia
Oxidative stress
Iron chelators
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spelling Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?Alsina Obiols, DavidPurroy Lledós, RosaRos Salvador, JoaquimTamarit Sumalla, JordiIron-sulfurFriedreich AtaxiaOxidative stressIron chelatorsFriedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deficient cells. We will also focus on the potential mechanisms causing cellular dysfunction in Friedreich Ataxia and on the potential use of the iron chelator deferiprone as a therapeutic agent for this disease.This work has been supported by grant SAF2017-83883-R from Ministerio de Economia Industria y Competitividad (Spain).MDPI2018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://doi.org/10.3390/ph11030089http://hdl.handle.net/10459.1/65008reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2017-83883-RReproducció del document publicat a https://doi.org/10.3390/ph11030089Pharmaceuticals, 2018, vol.11, núm. 3, art. 89, p. 1-15cc-by (c) David Alsina et al., 2018info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/oai:recercat.cat:10459.1/650082026-05-29T05:05:01Z
dc.title.none.fl_str_mv Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
title Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
spellingShingle Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
Alsina Obiols, David
Iron-sulfur
Friedreich Ataxia
Oxidative stress
Iron chelators
title_short Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
title_full Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
title_fullStr Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
title_full_unstemmed Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
title_sort Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
dc.creator.none.fl_str_mv Alsina Obiols, David
Purroy Lledós, Rosa
Ros Salvador, Joaquim
Tamarit Sumalla, Jordi
author Alsina Obiols, David
author_facet Alsina Obiols, David
Purroy Lledós, Rosa
Ros Salvador, Joaquim
Tamarit Sumalla, Jordi
author_role author
author2 Purroy Lledós, Rosa
Ros Salvador, Joaquim
Tamarit Sumalla, Jordi
author2_role author
author
author
dc.subject.none.fl_str_mv Iron-sulfur
Friedreich Ataxia
Oxidative stress
Iron chelators
topic Iron-sulfur
Friedreich Ataxia
Oxidative stress
Iron chelators
description Friedreich ataxia is a neurodegenerative disease with an autosomal recessive inheritance. In most patients, the disease is caused by the presence of trinucleotide GAA expansions in the first intron of the frataxin gene. These expansions cause the decreased expression of this mitochondrial protein. Many evidences indicate that frataxin deficiency causes the deregulation of cellular iron homeostasis. In this review, we will discuss several hypotheses proposed for frataxin function, their caveats, and how they could provide an explanation for the deregulation of iron homeostasis found in frataxin-deficient cells. We will also focus on the potential mechanisms causing cellular dysfunction in Friedreich Ataxia and on the potential use of the iron chelator deferiprone as a therapeutic agent for this disease.
publishDate 2018
dc.date.none.fl_str_mv 2018
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://doi.org/10.3390/ph11030089
http://hdl.handle.net/10459.1/65008
url https://doi.org/10.3390/ph11030089
http://hdl.handle.net/10459.1/65008
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2017-83883-R
Reproducció del document publicat a https://doi.org/10.3390/ph11030089
Pharmaceuticals, 2018, vol.11, núm. 3, art. 89, p. 1-15
dc.rights.none.fl_str_mv cc-by (c) David Alsina et al., 2018
info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
rights_invalid_str_mv cc-by (c) David Alsina et al., 2018
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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