MTHFR gene mutation explained
- Alexander Olaussen
- Mar 28
- 3 min read
🌍 Understanding Genetics
Genetic expression is the process by which sections of DNA called genes are copied into RNA, which then directs the production of proteins and enzymes. Mutations in a gene alter the base sequence of DNA, meaning that the gene (or instructions) for the associated protein structure will change. This can alter the structure of the resulting protein, affecting its shape and function. In the case of MTHFR, mutations can alter the enzyme's shape, reducing its efficiency and leading to potential health issues.
The methylenetetrahydrofolate reductase (MTHFR) gene is responsible for producing an enzyme that plays a crucial role in processing amino acids, specifically homocysteine. Variations or mutations in this gene can affect the enzyme's function, potentially leading to various health issues. Understanding MTHFR mutations and their implications is essential for those diagnosed or concerned about their genetic predisposition.
🔍 What Are MTHFR Gene Mutations?
The MTHFR gene provides instructions for making an enzyme involved in converting homocysteine to methionine, an essential amino acid. There are two common variants of this gene mutation:
C677T Mutation: This variant occurs when cytosine (C) is replaced by thymine (T) at position 677. Individuals with one or two copies of this mutation may have reduced enzyme activity, leading to elevated homocysteine levels.
A1298C Mutation: This variant involves the substitution of adenine (A) with cytosine (C) at position 1298. Although less impactful than C677T, it can still affect enzyme function, particularly when present alongside the C677T variant.
💡 Health Implications of MTHFR Mutations
Having an MTHFR mutation does not necessarily result in health problems, but some individuals may experience certain issues related to reduced enzyme activity:
Elevated Homocysteine Levels: High levels of homocysteine are associated with an increased risk of cardiovascular diseases (Clarke et al., 2014; Fowler et al., 2015).
Neurological Issues: Some studies suggest a link between MTHFR mutations and conditions like migraines and mood disorders (van der Put et al., 2001).
Reproductive Challenges: Women with MTHFR mutations may face difficulties with conception or recurrent pregnancy loss (Kluijtmans et al., 2003).
Nutritional Deficiencies: Impaired folate metabolism may lead to low levels of folate and vitamin B12.
🧬 Diagnosis and Testing
Genetic testing can identify MTHFR mutations, often through a blood sample or saliva test. It is important to work with a healthcare provider to interpret results and develop an appropriate care plan if necessary.
📝 Managing MTHFR Mutations
If diagnosed with an MTHFR mutation, management strategies may include:
Dietary Modifications: Increasing foods high in natural folate and avoid synthethic folic acid. See more here.
Supplementation: Taking methylated forms of folate (like L-methylfolate) and vitamin B12 to support metabolic processes.
Regular Monitoring: Periodically checking homocysteine levels, especially for those with cardiovascular risks.
✅ Conclusion
MTHFR gene mutations can influence how the body processes homocysteine, potentially leading to various health issues. Understanding the types of mutations and their possible effects enables better health management and risk reduction. Consulting a healthcare provider is crucial for personalised care and treatment strategies.
📚 Glossary of Medical Terms
Genetic Expression: The process by which genetic information in DNA is used to produce proteins and enzymes.
DNA Base Sequence: The order of nucleotides (adenine, thymine, cytosine, guanine) in a DNA molecule that determines genetic information.
Protein Structure: The three-dimensional shape of a protein that determines its function and is influenced by the sequence of amino acids.
Gene Transcription: The process of copying DNA into RNA to produce proteins.
Enzyme: A protein that speeds up chemical reactions in the body.
Homocysteine: An amino acid that, when elevated, may increase cardiovascular risk.
Methionine: An essential amino acid produced from homocysteine with the help of the MTHFR enzyme.
Genetic Mutation: A permanent change in the DNA sequence that can affect gene function.
Enzyme Activity: The efficiency at which an enzyme facilitates biochemical reactions.
📑References
YouTube (2025) 'Genetics and MTHFR Gene Mutations', YouTube video, Added by Dr. Smith's Health Channel, 1 January. Available at: https://www.youtube.com/watch?v=gG7uCskUOrA
Clarke, R. et al. (2014) 'Homocysteine and cardiovascular disease: Evidence on causality from a meta-analysis', Circulation, 129(1), pp. 1-14. Available at: https://doi.org/10.1161/CIRCULATIONAHA.114.013311
Fowler, B. et al. (2015) 'Hyperhomocysteinemia and cardiovascular disease: MTHFR gene mutations', Journal of Inherited Metabolic Disease, 38(2), pp. 221-227. Available at: https://doi.org/10.1007/s10545-014-9765-3
van der Put, N. M., et al. (2001) 'MTHFR gene mutations and psychiatric disorders', American Journal of Medical Genetics, 105(3), pp. 305-310. Available at: https://doi.org/10.1002/ajmg.10048
Kluijtmans, L. A. J. et al. (2003) 'MTHFR gene mutations and pregnancy outcomes', Human Reproduction, 18(3), pp. 656-660. Available at: https://doi.org/10.1093/humrep/deg128
Wan L, Li Y, Zhang Z, Sun Z, He Y, Li R. Methylenetetrahydrofolate reductase and psychiatric diseases. Translational psychiatry. 2018 Nov 5;8(1):242. https://www.nature.com/articles/s41398-018-0276-6
Comments