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DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich’s ataxia patients

Background:
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.

Methods:
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.

Read More: DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich’s ataxia patients

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