The Impact of a Defective MTHFR Gene: Reference Guide

3 days ago
2 min read

BRMI Staff

A chart of the most common MTHFR gene mutations

MTHFR is the abbreviation for methylenetetrahydrofolate reductase and if you have the gene defect or mutation, it causes impairment in the process of methylation. Methylation is the addition of a single carbon with three hydrogen atoms (called a methyl group) to another molecule. Methyl groups are essential for many of the countless reactions that control how your body converts food to energy, brain chemistry and detoxification to name a few. (1)

Methyl groups control:

ü The stress (fight-or-flight) response

ü The production and recycling of glutathione — the body's master antioxidant

ü The detoxification of hormones, chemicals and heavy metals

ü The inflammation response

ü Genetic expression and the repair of DNA

ü Neurotransmitters and the balancing of brain chemistry

ü Energy production

ü The repair of cells damaged by free radicals

ü The immune response, controlling T-cell production, fighting infections and viruses and regulating the immune response (3)

A chart of the most common MTHFR gene mutations in combination

Resources:

(1) “MTHFR Gene.” MedlinePlus Genetics. National Library of Medicine, National Institutes of Health. Updated 2023. https://medlineplus.gov/genetics/gene/mthfr/

(2) Radomska-Leśniewska, D.M., et al. “MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications—A Review.” Genes 16, no. 4 (2025): 441. MDPI. https://doi.org/10.3390/genes16040441

(3) Raghubeer, S., and T.E. Matsha. “Methylenetetrahydrofolate (MTHFR), the One-Carbon Cycle, and Cardiovascular Risks.” Nutrients 13, no. 12 (2021): 4562. PMC. https://doi.org/10.3390/nu13124562

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