ArticleJournal of molecular neuroscience : MN2012
Altered methylation of the DNA repair gene MGMT is associated with neural tube defects.
Article in Journal of molecular neuroscience : MN, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Multi-tissue DNA methylation analysis to identify an appropriate surrogate tissue for a unique neurological tissue specific to spina bifida.Clinical epigenetics · 2026Article
- Brain development and bioenergetic changes.Neurobiology of disease · 2024Review
- Maternal metabolism influences neural tube closure.Trends in endocrinology and metabolism: TEM · 2023Review
- Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?International journal of molecular sciences · 2023Review
- Homocysteine Metabolism in Pregnancy and Developmental Impacts.Frontiers in cell and developmental biology · 2022Review
- Abnormal methylation caused by folic acid deficiency in neural tube defects.Open life sciences · 2022Review
- Micronutrient imbalance and common phenotypes in neural tube defects.Genesis (New York, N.Y. : 2000) · 2021Review
- Effects of Vitrification on the Blastocyst Gene Expression Profile in a Porcine Model.International journal of molecular sciences · 2021Article
- Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.Human mutation · 2020Article
- MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acid-induced spina bifida aperta.Neural regeneration research · 2019Article
- Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis.Neural regeneration research · 2016Article
- Methylome analysis for spina bifida showsClinical epigenetics · 2016Article
- Altered methylation of IGF2 DMR0 is associated with neural tube defects.Molecular and cellular biochemistry · 2013Article
- Epigenetic profiles in children with a neural tube defect; a case-control study in two populations.PloS one · 2013Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA repair is critical for proper embryogenesis, and altered expression of DNA repair genes has been associated with neural tube defects (NTDs). The expression of DNA repair enzymes may be controlled, in part, by methylation of the promoter region. To assess whether disturbed promoter methylation pattern increases the incidence of NTDs, we employed methylation specific-multiplex ligation-dependent probe amplification (MS-MLPA) and matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) to quantify the methylation levels of multiple promoter CpG sites in normal human embryos and embryos with NTDs. Of the total seven DNA repair genes, two genes (MGMT, MSH6) were examined as having disturbed methylation levels by MS-MLPA kit, while only one gene was confirmed with a significant alternated methylation pattern by MALDI-TOF MS. In our research, methylation profiling of the DNA repair gene O (6)-methylguanine-DNA methyltransferase (MGMT) showed gender difference in embryogenesis. Comparison of MGMT promoter methylation revealed that hypomethylation was associated with an increased risk for cephalic malformations, especially with female embryos (Adjusted Odds Ratio = 8.250). The majority of individual CpG units within the promoter demonstrated hypomethylation. Meanwhile, the expression of MGMT was proven to increase significant in female cases. These results underscore the role of stable promoter methylation in the DNA repair enzymes MGMT for proper embryogenesis.
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