Epigenetic regulation of clinical manifestations of Friedreich's disease

Nuzhny EP, Abramycheva NY, Nikolaeva NS, Ershova MV, Klyushnikov SA, Illarioshkin SN, Fedotova EY.; Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(1):20-26. doi: 10.17116/jnevro202012001120. [Article in Russian; Abstract available in Russian from the publisher]

Correlations between the methylation level of CpG-sites in UP-GAA and DOWN-GAA and the number of GAA repeats in both expanded FXN alleles in patients with FD were found. An analysis revealed an earlier onset and a more severe course of FD in cases with hypermethylation of several CpG-sites in the UP-GAA region. The correlation between the methylation pattern and the presence of extraneural manifestations of FD was also revealed. In FD patients with cardiomyopathy, a hypomethylated CpG-site in the promoter region was found. In FD patients with carbohydrate metabolism disorders, two hypomethylated CpG-sites in the DOWN-GAA region were observed.


Эпигенетическая регуляция клинических проявлений болезни Фридрейха