The role of MTHFR polymorphism on hyperhomocysteinemia and folic acid and vitamin B metabolism
Keywords:
NCD, Hyperhomocysteinemia, MTHFR Variant genotyping, vitamin B6, B9, B12, Folic Acid Metabolism
Abstract
Non-communicable diseases (NCDs) remain a leading global health concern, with hyperhomocysteinemia recognized as a contributing metabolic disorder linked to cardiovascular disease, neurodegenerative conditions, and developmental anomalies. This presentation explores the pivotal role of methylenetetrahydrofolate reductase (MTHFR) polymorphisms—particularly C677T and A1298C variants—in disrupting homocysteine metabolism through impaired folate and vitamin B pathways.Downloads
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References
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3. Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R. A glance into MTHFR deficiency at a molecular level. Int J Mol Sci. 2022;23(1):167. doi:10.3390/ijms23010167
4. Polymorphic mutations in 5,10-methylenetetrahydrofolate reductase. In: Madame Curie Bioscience Database [Internet]. Austin (TX): Landes Bioscience; 2000–2013 [cited 2025 Sep 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6561/
5. Jacobsen DW. Hyperhomocysteinemia and oxidative stress: Time for a reality check? Clin Chem Lab Med. 1998;36(6):431–4. doi:10.1515/CCLM.1998.072
6. Ueland PM, Refsum H, Stabler SP, Malinow MR, Andersson A, Allen RH. Total homocysteine in plasma or serum: methods and clinical applications. Clin Chem. 1993;39(9):1764–79. doi:10.1093/clinchem/39.9.1764
7. World Health Organization. Preventing noncommunicable diseases [Internet]. Geneva: World Health Organization; [date unknown; cited 2025 Jul 16]. Available from: https://www.who.int/activities/preventing-noncommunicable-diseases
8. Tinelli C, Di Pino A, Ficulle E, Marcelli S, Feligioni M. Hyperhomocysteinemia as a risk factor and potential nutraceutical target for certain pathologies. Front Nutr. 2019;6:49. doi:10.3389/fnut.2019.00049
Submitted
2025-09-19
Published
2025-09-29
Section
Articles
Copyright (c) 2025 Rina Triana
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