Variations of frataxin protein levels in normal individuals
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Therese Boehm • Barbara Scheiber-Mojdehkar • Britta Kluge • Hans Goldenberg • Franco Laccone • Brigitte Sturm
- چاپ و سال / کشور: 2010
Description
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 GAATTC 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.
Neurol Sci (2011) 32:327–330 DOI 10.1007/s10072-010-0326-1 Received: 16 July 2009 / Accepted: 13 April 2010 / Published online: 27 May 2010
