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Nuzhnyi E.P.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia

Abramycheva N.Yu.

Research Center of Neurology, Russian Academy of Sciences, Moscow

Nikolaeva N.S.

Research Center of Neurology, Moscow, Russia

Ershova M.V.

Research Center of Neurology, Moscow, Russia

Klyushnikov S.A.

Research Center of Neurology, Moscow, Russia

Illarioshkin S.N.

Nauchnyĭ tsentr nevrologii RAMN

Fedotova E.Yu.

Research Center of Neurology, Moscow, Russia

Epigenetic regulation of clinical manifestations of Friedreich’s disease

Authors:

Nuzhnyi E.P., Abramycheva N.Yu., Nikolaeva N.S., Ershova M.V., Klyushnikov S.A., Illarioshkin S.N., Fedotova E.Yu.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(1): 20‑26

DOI: 10.17116/jnevro202012001120

Read: 2794 times

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Table of contents

EPIGENETIC REGULATION OF CLINICAL MANIFESTATIONS OF FRIEDREICH’S DISEASE
EPIGENETIC REGULATION OF CLINICAL MANIFESTATIONS OF FRIEDREICH’S DISEASE

To cite this article:

Nuzhnyi EP, Abramycheva NYu, Nikolaeva NS, Ershova MV, Klyushnikov SA, Illarioshkin SN, Fedotova EYu. Epigenetic regulation of clinical manifestations of Friedreich’s disease. S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(1):20‑26. (In Russ.)
https://doi.org/10.17116/jnevro202012001120

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Objective. To study a methylation profile of FXN gene and its influence on the clinical phenotype of Friedreich’s desease (FD). Material and methods. The methylation pattern was analyzed in 17 patients with FD. Forty-five CpG-sites in the promoter region and the region of intron 1 of FXN: before the GAA-expansion (UP-GAA) and after the GAA-expansion (DOWN-GAA), were studied. Results. 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. Conclusion. The results indicate a significant contribution of epigenetic modifications of FXN to the clinical presentation of FA.

Keywords:

Friedreich’s disease
epigenetics
DNA methylation
trinucleotide repeat expansion
phenotype heterogeneity

Authors:

Nuzhnyi E.P.

Pavlov First St. Petersburg State Medical University, St. Petersburg, Russia

Abramycheva N.Yu.

Research Center of Neurology, Russian Academy of Sciences, Moscow

Nikolaeva N.S.

Research Center of Neurology, Moscow, Russia

Ershova M.V.

Research Center of Neurology, Moscow, Russia

Klyushnikov S.A.

Research Center of Neurology, Moscow, Russia

Illarioshkin S.N.

Nauchnyĭ tsentr nevrologii RAMN

Fedotova E.Yu.

Research Center of Neurology, Moscow, Russia

Close metadata

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