Aberrant DNA methylation in lymphocytes of children with neurodevelopmental disorders

O. Yu Naumova*, S. Yu Rychkov, V. V. Odintsova, S. A. Kornilov, E. V. Shabalina, D. V. Antsiferova, O. V. Zhukova, E. L. Grigorenko

*Corresponding author for this work

Research output: Contribution to JournalArticleAcademicpeer-review


Recent research in the field of genomics and epigenetics has provided evidence that alterations in the system of epigenetic regulation are highly involved in the molecular etiology of neurodegenerative and neuropathic disorders. However, there is a gap in knowledge on the epigenetic perturbations that may accompany the CNS impairments during the development in the prenatal period and their manifestation as a congenital encephalopathy in the early postnatal period of child development. The present study is one of the first attempts aimed at addressing this gap. Here, we present data on genome-wide profiles of DNA methylation obtained using the Illumina HumanMethylation450 microarray in peripheral blood cells in a sample of young children (up to four years of age) diagnosed with congenital encephalopathy. We provide evidence on systematic alterations in the epigenome—predominant hypermethylation of gene promoter associated CpG islands—related to the CNS impairment in children. Specifically, we found significant DNA methylation changes in genes involved in DNA-dependent transcription regulation and transcription factor binding, with a key role of the transcription factor JUN; in genes controlling cellular response to hypoxia; and in genes involved in the control of neuronal development, functioning, and death.

Original languageEnglish
Pages (from-to)1243-1258
Number of pages16
JournalRussian Journal of Genetics
Issue number11
Publication statusPublished - 1 Nov 2017
Externally publishedYes


the organization of the study. We are grateful to the Government of the Russian Federation for the financial support (mega-grant no. 14.Z50.31.0027).

FundersFunder number
Government Council on Grants, Russian Federation


    • differential methylation
    • encephalopathy
    • epigenetics
    • genome-wide DNA methylation
    • Illumina HumanMethylation450
    • peripheral blood lymphocytes


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