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Hypomethylation of the MEG8 gene as a variant of epigenetic norm
https://doi.org/10.25557/2073-7998.2026.01.60-62
Abstract
Detection of multilocus imprinting disturbances (MLID) reveals epigenotypes which include data on methylation changes in imprinted genes whose function and contribution to the phenotype have not been well understood yet. The association with the phenotype has not been reliably established for hypomethylation of the GRB10, MEST, and PEG3 genes. The role of MEG8 hypomethylation in the absence of MEG3 hypermethylation in the imprinted cluster on chromosome 14q32.2 is also unclear. Our study of a control cohort of 100 healthy individuals revealed no methylation abnormalities in the GRB10, MEST, and PEG3 genes, likely indicating their involvement in the development of the phenotypes of patients with MLID and other imprinting disorders. However, isolated hypomethylation of the MEG8 gene, detected in 4% of samples, is likely a normal variant.
Supporting agencies: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation for RCMG.
About the Authors
E. G. Panchenko
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University; Morozovskaya Children’s City Clinical Hospital
Russian Federation
Russian Federation
Elizaveta G. Panchenko
1, Moskvorechie st., Moscow, 115478
1, Ostrovitianova st., Moscow, 117513
1/9, 4th Dobryninsky Lane, Moscow, 119049
G. G. Chesnokova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
A. V. Efremova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
D. V. Zaletaev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
V. V. Strelnikov
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
1, Moskvorechie st., Moscow, 115478
1, Ostrovitianova st., Moscow, 117513
References
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Review
For citations:
Panchenko E.G., Chesnokova G.G., Efremova A.V., Zaletaev D.V., Strelnikov V.V. Hypomethylation of the MEG8 gene as a variant of epigenetic norm. Medical Genetics. 2026;25(1):60-62. (In Russ.) https://doi.org/10.25557/2073-7998.2026.01.60-62
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