Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2024 Jul 27

PMID 39062651

Authors

Natasa Karas Kuzelicki

Bojan Doljak

Affiliations

Soon will be listed here.

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, , , , and have the strongest association with CHD, while among genes for enzymes of the methionine cycle and 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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