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Updated: Sep 18, 2025

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High Maternal Glycine Levels Increase the Risk of Developing Atrial Septal Defect in the Offspring.

Ya-Nan Qiao1, Wei-Cheng Chen2, Yu-Ling Chen3

  • 1Institute for Developmental and Regenerative Cardiovascular Medicine, MOE-Shanghai Key Laboratory of Children's Environmental Health, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.

JACC. Basic to Translational Science
|June 25, 2025
PubMed
Summary

Maternal glycine elevation, linked to a genetic variant, increases atrial septal defect (ASD) risk in offspring. This occurs via lysine-glycylation, a process inhibiting crucial cardiac signaling pathways.

Keywords:
TEKatrial septal defectsglycinematernal single-nucleotide variationpregnancy serum

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Area of Science:

  • Developmental Biology
  • Genetics
  • Biochemistry

Background:

  • Amino acid imbalances are associated with congenital heart disease (CHD) risk.
  • Specific genetic variants may influence amino acid metabolism and developmental outcomes.

Purpose of the Study:

  • To investigate the link between a specific genetic variant (rs2545801 C/C), maternal glycine levels, and atrial septal defects (ASDs).
  • To explore the molecular mechanisms by which elevated glycine impacts cardiac development.

Main Methods:

  • Genotyping analysis of women carrying the rs2545801 C/C variant.
  • Correlation analysis of maternal glycine levels during the first trimester with ASD risk.
  • Animal studies involving feeding pregnant mice with high-glycine diets.
  • Molecular analysis of TEK receptor tyrosine kinase signaling in cardiac endothelial cells.

Main Results:

  • Women with rs2545801 C/C genotypes showed higher glycine levels and a greater risk of ASDs in offspring.
  • Elevated maternal glycine levels during early pregnancy correlated with increased ASD incidence.
  • High-glycine diet in pregnant mice elevated ASD risk in their offspring.
  • Elevated glycine caused increased lysine-glycylation of TEK receptor, inhibiting TEK-PI3K-AKT/FOXO1 signaling.

Conclusions:

  • Maternal glycine elevation, influenced by the rs2545801 C/C genotype, is a risk factor for atrial septal defects.
  • Lysine-glycylation of the TEK receptor is a key mechanism mediating glycine-induced teratogenicity.
  • Targeting lysine-glycylation pathways may offer a novel therapeutic strategy for preventing ASDs.