Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

The Correlation between Methylation Disorders Caused by the MTHFR Polymorphism and the Folates (Folic Acid, 5-MTHF) Metabolism, in Coronary Artery Disease Patients Diagnosed by Invasive Coronary Angiography—Preliminary Results

Agnieszka Pietruszyńska-Reszetarska
* ,
Robert Pietruszyński
,
Ireneusz Majsterek
,
Tomasz Popławski
ORCID logo ,
Maciej Skrzypek
,
Beata Kolesińska
ORCID logo ,
Joanna Waśko
,
Cezary Watała
ORCID logo ,
Joanna Kapusta
ORCID logo ,
Robert Irzmański
Version 1 : Received: 12 July 2023 / Approved: 13 July 2023 / Online: 14 July 2023 (09:46:28 CEST)

How to cite: Pietruszyńska-Reszetarska, A.; Pietruszyński, R.; Majsterek, I.; Popławski, T.; Skrzypek, M.; Kolesińska, B.; Waśko, J.; Watała, C.; Kapusta, J.; Irzmański, R. The Correlation between Methylation Disorders Caused by the MTHFR Polymorphism and the Folates (Folic Acid, 5-MTHF) Metabolism, in Coronary Artery Disease Patients Diagnosed by Invasive Coronary Angiography—Preliminary Results. Preprints 2023, 2023070974. https://doi.org/10.20944/preprints202307.0974.v1 Pietruszyńska-Reszetarska, A.; Pietruszyński, R.; Majsterek, I.; Popławski, T.; Skrzypek, M.; Kolesińska, B.; Waśko, J.; Watała, C.; Kapusta, J.; Irzmański, R. The Correlation between Methylation Disorders Caused by the MTHFR Polymorphism and the Folates (Folic Acid, 5-MTHF) Metabolism, in Coronary Artery Disease Patients Diagnosed by Invasive Coronary Angiography—Preliminary Results. Preprints 2023, 2023070974. https://doi.org/10.20944/preprints202307.0974.v1

Abstract

Background: The presence of single nucleotide polymorphisms in the gene encoding key en-zyme in the folate pathway methyltetrahydrofolate reductase (MTHFR), causes methylation disorders associated with CAD development. Methods: Study group: 42 patients with CAD con-firmed by coronary angiography. Controls: 16 patients without CAD symptoms or significant coronary artery stenosis, based on invasive coronary angiography or multislice computed to-mography with coronary artery calcification scoring. Real-time PCR genotyping was assessed using TaqMan™ probes. Folic acid and 5-MTHF concentrations in blood serum were determined by LC-MS. Results: c.[1286A>C];[1286A>C] MTHFR polymorphism occurred significantly more often in (CAD+) patients compared to (CAD-) cohort and to the European population. The con-centration of 5-MTHF and folic acid in the subgroups of patients with methylation disorders di-vided by genotypes and (CAD+) was lower compared to (CAD-). Conclusions: The homozygous c.1286 A>C MTHFR variant can be considered as CAD genetic marker. In the subjects with the c.1286 A>C heterozygous and homozygous genotypes, lower concentrations of methyltetrahy-drofolate (5-MTHF) were observed. 5-MTHF can be considered as a biomarker of CAD. Identifi-cation of people at high risk of CAD using genetic tests can contribute to personalized therapy using active (methylated) form of folic acid (5-MTHF) in CAD patients with MTHFR polymor-phisms.

Keywords

methylation, 5-MTHF, folic acid, gene polymorphism, coronary artery disease, biomarker

Subject

Medicine and Pharmacology, Cardiac and Cardiovascular Systems

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.