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Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders
Carla Lintas1,2, Ilaria Cassano1, Alessia Azzarà1
1Research Unit of Medical Genetics, Department of Medicine, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo, 21, 00128 Roma, Italy.
Genes
|March 29, 2023
Summary
Maternal epigenetic dysregulation in genes like RELN and HTR1A may influence neurodevelopmental disorders (NDs) such as Asperger Syndrome (AS). This study examined gene methylation in mothers of children with AS, ADHD, and typical development.
Area of Science:
- Neuroscience
- Genetics
- Epigenetics
Background:
- Neurodevelopmental Disorders (NDs) are complex multifactorial diseases influenced by genetic and environmental factors.
- Epigenetic dysregulation, particularly DNA methylation, is increasingly recognized as a potential etiological agent in NDs.
- Research has primarily focused on probands' epigenomes, overlooking maternal epigenetic influences during prenatal development.
Purpose of the Study:
- To investigate the promoter methylation profiles of key neurodevelopmental genes (BDNF, RELN, MTHFR, HTR1A) in mothers of children with Asperger Syndrome (AS), Attention Deficit Hyperactivity Disorder (ADHD), and typically developing children.
- To explore potential maternal epigenetic dysregulation as a contributing factor to NDs in offspring.
Main Methods:
- Analysis of DNA methylation patterns in the promoter regions of BDNF, RELN, MTHFR, and HTR1A genes.
- Comparison of methylation profiles in mothers of 45 age-matched children diagnosed with AS, ADHD, or typical development.
- Quantitative assessment of gene promoter methylation using established molecular techniques.
Main Results:
- Significant hypermethylation was observed in the RELN and HTR1A gene promoters in mothers of children with AS compared to mothers of children with ADHD and controls.
- The MTHFR gene promoter showed significantly higher methylation in mothers of children with AS exclusively when compared to control mothers.
- No significant differences in BDNF gene promoter methylation were found across the maternal groups.
Conclusions:
- Maternal epigenetic dysregulation, specifically altered promoter methylation of RELN, HTR1A, and MTHFR genes, is associated with Asperger Syndrome in offspring.
- These findings suggest a potential role for maternal epigenetics in the etiology of NDs, warranting further investigation.
- Targeting maternal epigenetic factors could offer novel therapeutic or preventative strategies for neurodevelopmental disorders.
Keywords:
Asperger SyndromeAttention Deficit Hyperactivity DisorderAutism Spectrum DisorderDNA methylationepigenetic dysregulationexposomeneurodevelopmental disordersrisk factorsMore Related Videos
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