Variations of frataxin protein levels in normal individuals |
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Authors: | Therese Boehm Barbara Scheiber-Mojdehkar Britta Kluge Hans Goldenberg Franco Laccone and Brigitte Sturm |
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Institution: | (1) Department of Medical Chemistry, Medical University of Vienna, Waehringerstr. 10, 1090 Vienna, Austria;(2) Department of Medical Genetics, Medical University of Vienna, Waehringerstr. 10, 1090 Vienna, Austria; |
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Abstract: | 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. |
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