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Decreased Amino Acid Concentrations are Involved in Congenital Heart Disease

Guangrui Lai1, Xiaoming Li2, Bijun Zhang1

  • 1Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, China.

Annals of Nutrition & Metabolism
|March 28, 2019
PubMed

Insights

Amino acids (AAs) decreased in amniotic fluid of fetuses with congenital heart disease (CHD). This reduction may impact insulin-like growth factor type 1 receptor (IGF1R) expression, potentially affecting heart development.

Area of Science:

  • Biochemistry
  • Developmental Biology
  • Genetics

Background:

  • Congenital heart disease (CHD) is a prevalent malformation in China.
  • The role of amniotic fluid (AF) composition in fetal development, particularly in CHD, requires further investigation.

Purpose of the Study:

  • To investigate alterations in amino acid (AA) concentrations in the amniotic fluid (AF) of fetuses with CHD.
  • To determine the relationship between AF AAs and the insulin-like growth factor type 1 receptor (IGF1R) pathway.

Main Methods:

  • Analysis of AF samples from pregnancies with and without CHD using liquid chromatography-tandem mass spectrometry for AA quantification.
  • Quantification of IGF axis-related proteins and epigenetic markers (P300) in AF.
  • Western blot analysis to confirm IGF1R and P300 expression.
  • In vitro experiments culturing H9C2 cells with altered AA concentrations.

Main Results:

  • A significant decrease in most AAs was observed in the AF of fetuses with CHD.
  • Reduced levels of P300 and IGF1R were found in the CHD group.
  • Lowering AA concentrations in cell cultures decreased P300 and IGF1R expression and histone acetylation of the IGF1R promoter.

Conclusions:

  • Decreased AA levels in AF are associated with CHD.
  • AAs may influence IGF1R expression via the P300 protein, suggesting a role in fetal heart development.
Abstract

Keywords:
Amino acidsCongenital heart diseasesInsulin-like growth factor type 1 receptorP300

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