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Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles
by
Nataša Karas Kuželički
Nataša Karas Kuželički 1,* and
Bojan Doljak
Bojan Doljak 2
1
Department of Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Aškerčeva 7, 1000 Ljubljana, Slovenia
2
Department of Pharmaceutical Biology, Faculty of Pharmacy, University of Ljubljana, Aškerčeva 7, 1000 Ljubljana, Slovenia
*
Author to whom correspondence should be addressed.
Genes 2024, 15(7), 872; https://doi.org/10.3390/genes15070872 (registering DOI)
Submission received: 3 May 2024
/
Revised: 29 June 2024
/
Accepted: 30 June 2024
/
Published: 2 July 2024
Abstract
Congenital heart disease is one of the most common congenital malformations and thus represents a considerable public health burden. Hence, the identification of individuals and families with an increased genetic predisposition to congenital heart disease (CHD) and its possible prevention is important. Even though CHD is associated with the lack of folate during early pregnancy, the genetic background of folate and methionine metabolism perturbations and their influence on CHD risk is not clear. While some genes, such as those coding for cytosolic enzymes of folate/methionine cycles, have been extensively studied, genetic studies of folate transporters (de)glutamation enzymes and mitochondrial enzymes of the folate cycle are lacking. Among genes coding for cytoplasmic enzymes of the folate cycle, MTHFR, MTHFD1, MTR, and MTRR have the strongest association with CHD, while among genes for enzymes of the methionine cycle BHMT and BHMT2 are the most prominent. Among mitochondrial folate cycle enzymes, MTHFD2 plays the most important role in CHD formation, while FPGS was identified as important in the group of (de)glutamation enzymes. Among transporters, the strongest association with CHD was demonstrated for SLC19A1.
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MDPI and ACS Style
Karas Kuželički, N.; Doljak, B.
Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles. Genes 2024, 15, 872.
https://doi.org/10.3390/genes15070872
AMA Style
Karas Kuželički N, Doljak B.
Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles. Genes. 2024; 15(7):872.
https://doi.org/10.3390/genes15070872
Chicago/Turabian Style
Karas Kuželički, Nataša, and Bojan Doljak.
2024. "Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles" Genes 15, no. 7: 872.
https://doi.org/10.3390/genes15070872
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