caa a22 4500 445358009 CHVBK 20180317142906.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s10072-010-0326-1 doi (NATIONALLICENCE)springer-10.1007/s10072-010-0326-1 Variations of frataxin protein levels in normal individuals [Elektronische Daten] [Therese Boehm, Barbara Scheiber-Mojdehkar, Britta Kluge, Hans Goldenberg, Franco Laccone, Brigitte Sturm] Friedreich's ataxia (FRDA) is the most common of the inherited ataxias and is associated with GAA trinucleotide repeat expansions within the first intron of the frataxin (FXN) gene. There are expanded FXN alleles from 66 to 1,700 GAA·TTC repeats in FRDA patients and correlations between number of GAA repeats and frataxin protein levels are assumed. Here, we present for the first time frataxin protein levels as well as analysis of GAA triplet repeats in the FXN gene in a population of 50 healthy Austrian people. Frataxin protein levels were measured in lymphocytes from blood samples by ELISA and GAA repeats were analyzed by capillary electrophoresis. Rather unexpectedly, we found a high variation of frataxin protein levels among the individuals. In addition, there was no correlation between frataxin levels, GAA repeats, age and sex in this group. However, these findings are of great importance for better characterization of the disease. Springer-Verlag, 2010 Allele nationallicence Frataxin nationallicence Friedreich's ataxia nationallicence GAA repeats nationallicence Boehm Therese Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut Scheiber-Mojdehkar Barbara Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut Kluge Britta Department of Medical Genetics, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut Goldenberg Hans Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut Laccone Franco Department of Medical Genetics, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut Sturm Brigitte Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut Neurological Sciences Springer Milan 32/2(2011-04-01), 327-330 1590-1874 32:2<327 2011 32 10072 https://doi.org/10.1007/s10072-010-0326-1 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-010-0326-1 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Boehm Therese Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut NATIONALLICENCE 700 1- Scheiber-Mojdehkar Barbara Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut NATIONALLICENCE 700 1- Kluge Britta Department of Medical Genetics, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut NATIONALLICENCE 700 1- Goldenberg Hans Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut NATIONALLICENCE 700 1- Laccone Franco Department of Medical Genetics, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut NATIONALLICENCE 700 1- Sturm Brigitte Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090, Vienna, Austria aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/2(2011-04-01), 327-330 1590-1874 32:2<327 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer