[Epigenetic Regulation of Clinical Manifestations of Friedreich's Disease]

E P Nuzhny, N Yu Abramycheva, N S Nikolaeva, M V Ershova, S A Klyushnikov, S N Illarioshkin, E Yu Fedotova. Épigeneticheskaia reguliatsiia klinicheskikh proiavleniĭ bolezni Fridreĭkha [Epigenetic regulation of clinical manifestations of Friedreich's disease]. Zh Nevrol Psikhiatr Im S S Korsakova. 2020;120(1):20‐26. doi:10.17116/jnevro202012001120

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.