Universitat de Lleida
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.
This work has been supported by grant SAF2017-83883-R from Ministerio de Economia Industria y Competitividad (Spain).
English
Iron-sulfur; Friedreich Ataxia; Oxidative stress; Iron chelators
MDPI
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/SAF2017-83883-R/ES/TARGETING MITOCHONDRIA IN FRIEDREICH ATAXIA: MOLECULAR MECHANISMS AND THERAPEUTIC APPROACHES/
Reproducció del document publicat a https://doi.org/10.3390/ph11030089
Pharmaceuticals, 2018, vol.11, núm. 3, art. 89, p. 1-15
cc-by (c) David Alsina et al., 2018
http://creativecommons.org/licenses/by/4.0/
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