Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia
Identifieur interne : 000351 ( Main/Exploration ); précédent : 000350; suivant : 000352Correlation of frataxin content in blood and skeletal muscle endorses frataxin as a biomarker in Friedreich ataxia
Auteurs : Wolfgang Nachbauer [Autriche] ; Julia Wanschitz [Autriche] ; Hannes Steinkellner [Autriche] ; Andreas Eigentler [Autriche] ; Brigitte Sturm [Autriche] ; Kurt Hufler [Autriche] ; Barbara Scheiber-Mojdehkar [Autriche] ; Werner Poewe [Autriche] ; Markus Reindl [Autriche] ; Sylvia Boesch [Autriche]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-08-15.
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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
Affiliations:
- Autriche
- Tyrol (Land), Vienne (Autriche)
- Innsbruck, Vienne (Autriche)
- Université de médecine d'Innsbruck
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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</div></front></TEI><affiliations><list><country><li>Autriche</li></country><region><li>Tyrol (Land)</li><li>Vienne (Autriche)</li></region><settlement><li>Innsbruck</li><li>Vienne (Autriche)</li></settlement><orgName><li>Université de médecine d'Innsbruck</li></orgName></list><tree><country name="Autriche"><noRegion><name sortKey="Nachbauer, Wolfgang" sort="Nachbauer, Wolfgang" uniqKey="Nachbauer W" first="Wolfgang" last="Nachbauer">Wolfgang Nachbauer</name></noRegion><name sortKey="Boesch, Sylvia" sort="Boesch, Sylvia" uniqKey="Boesch S" first="Sylvia" last="Boesch">Sylvia Boesch</name><name sortKey="Eigentler, Andreas" sort="Eigentler, Andreas" uniqKey="Eigentler A" first="Andreas" last="Eigentler">Andreas Eigentler</name><name sortKey="Hufler, Kurt" sort="Hufler, Kurt" uniqKey="Hufler K" first="Kurt" last="Hufler">Kurt Hufler</name><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name><name sortKey="Reindl, Markus" sort="Reindl, Markus" uniqKey="Reindl M" first="Markus" last="Reindl">Markus Reindl</name><name sortKey="Scheiber Ojdehkar, Barbara" sort="Scheiber Ojdehkar, Barbara" uniqKey="Scheiber Ojdehkar B" first="Barbara" last="Scheiber-Mojdehkar">Barbara Scheiber-Mojdehkar</name><name sortKey="Steinkellner, Hannes" sort="Steinkellner, Hannes" uniqKey="Steinkellner H" first="Hannes" last="Steinkellner">Hannes Steinkellner</name><name sortKey="Sturm, Brigitte" sort="Sturm, Brigitte" uniqKey="Sturm B" first="Brigitte" last="Sturm">Brigitte Sturm</name><name sortKey="Wanschitz, Julia" sort="Wanschitz, Julia" uniqKey="Wanschitz J" first="Julia" last="Wanschitz">Julia Wanschitz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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