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Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease
Univ Valencia, Dept Genet, Valencia, Spain.;Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA..
Univ Valencia, Dept Genet, Valencia, Spain..
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Ecology and Genetics. Univ Valencia, Dept Genet, Valencia, Spain..
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA..
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2016 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 11, no 7, e0159209Article in journal (Refereed) Published
Abstract [en]

Friedreich's ataxia (FRDA), the most commonly inherited ataxia in populations of European origin, is a neurodegenerative disorder caused by a decrease in frataxin levels. One of the hallmarks of the disease is the accumulation of iron in several tissues including the brain, and frataxin has been proposed to play a key role in iron homeostasis. We found that the levels of zinc, copper, manganese and aluminum were also increased in a Drosophila model of FRDA, and that copper and zinc chelation improve their impaired motor performance. By means of a candidate genetic screen, we identified that genes implicated in iron, zinc and copper transport and metal detoxification can restore frataxin deficiency-induced phenotypes. Taken together, these results demonstrate that the metal dysregulation in FRDA includes other metals besides iron, therefore providing a new set of potential therapeutic targets.

Place, publisher, year, edition, pages
2016. Vol. 11, no 7, e0159209
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URN: urn:nbn:se:uu:diva-304450DOI: 10.1371/journal.pone.0159209ISI: 000380169600039PubMedID: 27433942OAI: diva2:1033012
EU, FP7, Seventh Framework Programme, 242193 EFACTSNIH (National Institute of Health), R01-NS42179
Available from: 2016-10-05 Created: 2016-10-05 Last updated: 2016-10-05Bibliographically approved

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