MTHFR Mutation & Women's Health

Your DNA is a very long sequence of tiny acids which provides instructions about various cellular activity. The genetic code or DNA sequence determines what your cells do and how they behave; additionally, it gives instructions to cells about which amino acids (proteins) to make. 

Single nucleotide polymorphisms (SNPs) are genetic variants in DNA. A variant is a part of a gene’s DNA that varies from person to person. Each SNP represents a difference in a pair of DNA building blocks. These SNPs will affect the instructions for the cell and influence cellular actions. Genetic variants determine what we look like, metabolic processes and even our predisposition to certain illnesses. 

For easier referencing, the term SNPs is often pronounced "snips".

Single nucleotide polymorphisms in specific genes have gained increased popularity as of late. A clear example is the MTHFR gene, which has been a buzz word in the natural medicine community. 

What is MTHFR?

MTHFR is the abbreviation for methylenetetrahydrofolate reductase, an enzyme that helps the body modify proteins and activate folate. Folate is also known as vitamin B9 and it is essential in the production of DNA. 

Your genes are constantly communicating with each other. Essentially, you do not treat single SNPs or target just one SNP and expect a quick fix.

Naturopathically, we would treat you as a whole person. In some cases, one supplement targeting one genetic SNP can work wonderfully if your diet and lifestyle are supportive. However, using a single supplement to target an SNP can sometimes wreak havoc on your condition because it doesn’t address other SNPs, especially without altering your overall diet or lifestyle.

If you have an MTHFR SNP, it means that your ability to activate folate, in a process called methylation, is compromised. It can result in elevated levels of homocysteine (which is significant in cardiac conditions), impair your ability to produce neurotransmitters (causing mood instability), and even play a role in those who have experienced recurrent miscarriages or struggle to conceive. 

In women with hormonal, mood and gynaecological conditions, the most common SNPS I see are those involving methylation, histamine, and estrogen metabolism. 

Having compromised methylation can result in issues with tolerating histamine and high histamine foods, and also potentially experience issues with estrogen metabolism. In addition to MTHFR, The SNPs associated with histamine sensitivity/intolerance is DAO and HNMT, and the SNP specifically associated with estrogen metabolism is COMT. 

If you have these SNPs, it is worth working with a naturopath or clinical nutritionist to address this, as these may be part of the root cause of what is driving your health issues. 

You may need to avoid specific forms of Vitamin B12 and B9 such as cyanocobalamin, and folic acid, experiment with a low histamine diet, and use herbal medicine for liver support to aid with estrogen metabolism.

Detoxifying your environment, eating well, sleeping well and moving your body are super important, too. 

Summary

If you have an MTHFR mutation and some health issues to address, you can’t expect one supplement to fix things. You need to adopt a well-rounded holistic approach to address methylation and the other metabolic processes which are interlinked with methylation. Below are my top 10 naturopathic tips to help you do this:

1. Avoid supplemental folic acid. Only take Vitamin B9 in the form of methylfolate, or folinic acid.
   
2. Avoid supplemental cyanocobalamin. Only take Vitamin B12 in the form of methylcobalamin, adenosylcobalamin or hydroxocobalamin.
   
3. Take Vitamin B6 in the form of P5P.
   
4. Support liver detoxification and prevent inflammation. One of the ways you can do this is with curcumin, derived from turmeric (Hello Happy Turmeric!). Read more about the benefits of turmeric here.
   
   
   
5. Avoid food that is fortified with folic acid (including breads and wheat-based products).
6. If possible, avoid pharmaceutical medicines which can deplete and/or antagonise folate and Vitamin B12 including antacids, the oral contraceptive pill, methotrexate (amethopterin), sulfadiazine, pyrimethamine, sulfacetamide, trimethoprim and triamterene, nitrous oxide (a gas often used for dental procedures).
7. Eat an anti-inflammatory, colourful, whole food diet, opting for organic produce where possible Read more about inflammatory foods to avoid. 
8. If you have amalgam mercury fillings, get them removed.
9. Cook with an electric stove instead of gas.
10. Sweat at least 3 times per week.
11. Eat dark leafy greens almost daily, as they are a natural source of folate. 
12. Test your homocysteine levels.
13. Avoid using plastic containers for your food, and definitely do not heat anything up in plastic.
14. Drink filtered water.
15. If you live somewhere with high levels of pollution, consider getting an air purifier for your home. 

REFERENCES

Nishi et al. Meta-analyses of Blood Homocysteine Levels for Gender and Genetic Association Studies of the MTHFR C677T Polymorphism in Schizophrenia, Schizophrenia Bulletin, Volume 40, Issue 5, September 2014, Pages 1154–1163.
https://doi.org/10.1093/schbul/sbt154

Daniel Fernández-Villa, Maria Rosa Aguilar,  Luis Rojo, Folic Acid Antagonists: Antimicrobial and Immunomodulating Mechanisms and Applications, Int. J. Mol. Sci. 2019, 20(20), 4996.
 https://doi.org/10.3390/ijms20204996

Lin Wan, Yuhong Li, Zhengrong Zhang, Zuoli Sun, Yi He, Rena Li, Methylenetetrahydrofolate reductase and psychiatric diseases, Transl Psychiatry. 2018; 8: 242.
https://www.nature.com/articles/s41398-018-0276-6

Zhong Lin et al. Interactions between genetic variants involved in the folate metabolic pathway and serum lipid, homocysteine levels on the risk of recurrent spontaneous abortion, Lipids Health Dis. 2019; 18: 143. https://lipidworld.biomedcentral.com/articles/10.1186/s12944-019-1083-7