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Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia

Identifieur interne : 002973 ( Main/Corpus ); précédent : 002972; suivant : 002974

Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia

Auteurs : Wolfgang Nachbauer ; Julia Wanschitz ; Hannes Steinkellner ; Andreas Eigentler ; Brigitte Sturm ; Kurt Hufler ; Barbara Scheiber-Mojdehkar ; Werner Poewe ; Markus Reindl ; Sylvia Boesch

Source :

RBID : ISTEX:30F084F8B10A4EF3D905A61A9C09FFA58E8C1E9A

English descriptors

Abstract

Background:: Friedreich ataxia is an autosomal recessive disorder caused by mutations in the frataxin gene, leading to reduced levels of the mitochondrial protein frataxin. Assays to quantitatively measure frataxin in peripheral blood have been established. To determine the validity of frataxin as a biomarker for clinical trials, we assessed frataxin in clinically affected tissue. Methods:: In 7 patients with Friedreich ataxia, frataxin content was measured in blood and skeletal muscle before and after treatment with recombinant human erythropoietin, applying the electrochemiluminescence immunoassay. Results:: We found frataxin content to be correlated in peripheral blood mononuclear cells and skeletal muscle in drug‐naive patients with Friedreich ataxia. The correlation of frataxin content in both compartments remained significant after 8 weeks of treatment. Skeletal‐muscle frataxin values correlated with ataxia using the Scale for the Assessment and Rating of Ataxia score. Conclusions:: Our results endorse frataxin measurements in peripheral blood cells as a valid biomarker in Friedreich ataxia. © 2011 Movement Disorder Society

Url:
DOI: 10.1002/mds.23789

Links to Exploration step

ISTEX:30F084F8B10A4EF3D905A61A9C09FFA58E8C1E9A

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<abstract lang="en">Background:: Friedreich ataxia is an autosomal recessive disorder caused by mutations in the frataxin gene, leading to reduced levels of the mitochondrial protein frataxin. Assays to quantitatively measure frataxin in peripheral blood have been established. To determine the validity of frataxin as a biomarker for clinical trials, we assessed frataxin in clinically affected tissue. Methods:: In 7 patients with Friedreich ataxia, frataxin content was measured in blood and skeletal muscle before and after treatment with recombinant human erythropoietin, applying the electrochemiluminescence immunoassay. Results:: We found frataxin content to be correlated in peripheral blood mononuclear cells and skeletal muscle in drug‐naive patients with Friedreich ataxia. The correlation of frataxin content in both compartments remained significant after 8 weeks of treatment. Skeletal‐muscle frataxin values correlated with ataxia using the Scale for the Assessment and Rating of Ataxia score. Conclusions:: Our results endorse frataxin measurements in peripheral blood cells as a valid biomarker in Friedreich ataxia. © 2011 Movement Disorder Society</abstract>
<note type="content">*Funding agencies: This study was funded by a grant from the Austrian National Bank (ÖNB Jubiläumsfond). Relevant conflicts of interest/financial disclosures: Nothing to report. Full financial disclosures and author roles may be found in the online version of this article.</note>
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