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Methylation of genes of hereditary aneurysms in aortopathy
https://doi.org/10.25557/2073-7998.2025.05.69-70
Abstract
DNA methylation changes play an important role in aortopathies. However, the methylation status of genes of hereditary thoracic aortic aneurysms in patients with aneurysm, atherosclerosis and their combination remains unclear. DNA methylation of 53 genes was assessed using the RRBS method in the atherosclerotic plaque, dilated and non-dilated aorta of the patients with sporadic thoracic aortic aneurysm and tricuspid aortic valve. We also performed a comparative analysis of own and external data. It was shown that in patients with aneurysm in the atherosclerotic plaque relative to the non-dilated aorta, differential methylation affects the regions of enhancers of the NOTCH1 and GATA5 genes.
Supporting agencies: The work was carried out according to the State Assignment of the Ministry of Science and Higher Education No. 122020300041-7.
About the Authors
I. A. Goncharova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
Irina A. Goncharova
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
S. A. Shipulina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
Yu. A. Koroleva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
D. S. Panfilov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
111A, Kievskaya st., Tomsk, 634012, Russian Federation
B. N. Kozlov
Cardiology Research Institute, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
111A, Kievskaya st., Tomsk, 634012, Russian Federation
M. S. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050, Russian Federation
References
1. Waldron C., Zafar M.A., Ziganshin B.A., et al. Evidence Accumulates: Patients with Ascending Aneurysms Are Strongly Protected from Atherosclerotic Disease. Int J Mol Sci. 2023;24(21):15640.
2. Goncharova I.A., Shipulina S.A., Sleptcov A.A., et al. Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder. Int J Mol Sci. 2024;25(15):8315.
3. Lacey M., Baribault C., Ehrlich K.C., Ehrlich M. Atherosclerosisassociated differentially methylated regions can reflect the disease phenotype and are often at enhancers. Atherosclerosis. 2019;280:183-191.
Review
For citations:
Goncharova I.A., Shipulina S.A., Zarubin A.A., Koroleva Yu.A., Panfilov D.S., Kozlov B.N., Nazarenko M.S. Methylation of genes of hereditary aneurysms in aortopathy. Medical Genetics. 2025;24(5):69-70. (In Russ.) https://doi.org/10.25557/2073-7998.2025.05.69-70
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