Publication Date
1-1-2022
Journal
Epigenetics
DOI
10.1080/15592294.2021.1878725
PMID
33491544
PMCID
PMC8865305
PubMedCentral® Posted Date
2-17-2021
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
Antigens, CD, DNA Methylation, Fibroblast Growth Factors, Humans, Integrin alpha Chains, Neural Tube Defects, Phosphatidylinositol 3-Kinases, Proto-Oncogene Proteins c-akt, Receptor, Muscarinic M1, Signal Transduction, Neural tube defects, ; PI3K-AKT signalling pathway; methylation
Abstract
Neural tube defects (NTDs) are a group of common and severe congenital malformations. The PI3K-AKT signalling pathway plays a crucial role in the neural tube development. There is limited evidence concerning any possible association between aberrant methylation in PI3K-AKT signalling pathway genes and NTDs. Therefore, we aimed to investigate potential associations between aberrant methylation of PI3K-AKT pathway genes and NTDs. Methylation studies of PI3K-AKT pathway genes utilizing microarray genome-methylation data derived from neural tissues of ten NTD cases and eight non-malformed controls were performed. Targeted DNA methylation analysis was subsequently performed in an independent cohort of 73 NTD cases and 32 controls to validate the methylation levels of identified genes. siRNAs were used to pull-down the target genes in human embryonic stem cells (hESCs) to examine the effects of the aberrant expression of target genes on neural cells. As a result, 321 differentially hypermethylated CpG sites in the promoter regions of 30 PI3K-AKT pathway genes were identified in the microarray data. In target methylation analysis,
Included in
Biological Phenomena, Cell Phenomena, and Immunity Commons, Life Sciences Commons, Medical Cell Biology Commons, Medical Genetics Commons, Medical Microbiology Commons, Medical Molecular Biology Commons, Medical Specialties Commons
Comments
This article has been corrected. See Epigenetics. 2024 Aug 4;19(1):2388007.
Associated Data