The most frequent mutation of Friedreich’s ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. It’s known that the length of GAA is directly correlated with disease severity. The effect of mutation is a severe reduction of mRNA. Recently, a link among aberrant CpG methylation, chromatin organization and GAA repeat was proposed.
In this study, using pyrosequencing technology, we have performed a quantitative analysis of the methylation status of 5 CpG sites located within the region upstream of GAA repeat, in 67 FRDA patients.