Russian Journal of Genetics

, Volume 53, Issue 11, pp 1243–1258 | Cite as

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
Human Genetics


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.


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


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Copyright information

© Pleiades Publishing, Inc. 2017

Authors and Affiliations

  • O. Yu. Naumova
    • 1
    • 2
    • 3
  • S. Yu. Rychkov
    • 1
  • V. V. Odintsova
    • 2
    • 4
  • S. A. Kornilov
    • 2
    • 3
  • E. V. Shabalina
    • 2
  • D. V. Antsiferova
    • 2
  • O. V. Zhukova
    • 1
  • E. L. Grigorenko
    • 2
    • 3
  1. 1.Vavilov Institute of General GeneticsRussian Academy of SciencesMoscowRussia
  2. 2.Department of PsychologySt. Petersburg State UniversitySt. PetersburgRussia
  3. 3.Texas Institute for Measurements, Evaluation and StatisticsUniversity of HoustonHoustonUSA
  4. 4.Bakulev Scientific Center of Cardiovascular SurgeryMoscowRussia

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