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Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles

Nataša Karas Kuželički1, Bojan Doljak2

  • 1Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Aškerčeva 7, 1000 Ljubljana, Slovenia.

Genes
|July 27, 2024
PubMed

Insights

Genetic factors influence congenital heart disease (CHD) risk, particularly involving folate and methionine metabolism. Key genes like MTHFR and MTHFD2 are strongly associated with CHD development.

Area of Science:

  • Genetics
  • Developmental Biology
  • Public Health

Background:

  • Congenital heart disease (CHD) is a significant public health concern and a common birth defect.
  • While maternal folate deficiency is linked to CHD, the genetic basis of folate and methionine metabolism's role in CHD risk remains unclear.
  • Research has focused on cytosolic enzymes, with limited investigation into folate transporters, deglutamation enzymes, and mitochondrial folate cycle enzymes.

Purpose of the Study:

  • To investigate the genetic predisposition to congenital heart disease (CHD).
  • To explore the influence of genetic variations in folate and methionine metabolism on CHD risk.
  • To identify key genes involved in folate transport, deglutamation, and mitochondrial folate metabolism associated with CHD.

Main Methods:

  • Genetic association studies were conducted.
  • Analysis focused on genes encoding cytosolic enzymes of folate/methionine cycles (e.g., MTHFR, MTHFD1, MTR, MTRR, BHMT, BHMT2).
  • Investigated genes for mitochondrial folate cycle enzymes (MTHFD2) and (de)glutamation enzymes (FPGS), as well as folate transporters (SLC19A1).

Main Results:

  • Genes MTHFR, MTHFD1, MTR, and MTRR showed the strongest association with CHD among cytoplasmic folate cycle enzymes.
  • BHMT and BHMT2 were identified as prominent genes in the methionine cycle related to CHD.
  • MTHFD2 demonstrated the most significant role in CHD among mitochondrial folate cycle enzymes, while FPGS was important for deglutamation, and SLC19A1 for transport.

Conclusions:

  • Genetic variations in folate and methionine metabolism pathways significantly contribute to congenital heart disease risk.
  • Specific genes, including MTHFR, MTHFD1, MTR, MTRR, BHMT, BHMT2, MTHFD2, FPGS, and SLC19A1, are critically involved in CHD development.
  • Further research into these genetic factors could aid in identifying at-risk individuals and developing preventive strategies for CHD.

Keywords:
congenital heart diseasefolategeneticsmethioninetransporters

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