What is the MTHFR Gene?



What in the world is MTHFR you may ask? Once you start becoming involved in your own health journey, new terms and concepts will become the order of the day. You may even feel like sometimes you are studying for a medical degree, without the paper to prove it! One of the most interesting areas in this is the role of epigenetics, or the ability to change and ater our genes by outside influences, such as diet.

Learning and improving your kowledge is a really important step in being self-empowered about your disease process and how your body works. If you find after changing your diet and implementing rest and relaxation protocols in your life, that things are still not as good as you would like them to be and you are still suffering with fatigue and other issues, genetic testing can be very useful.

It is quite common for those of us with autoimmune disease to have some strange genetic mutations (no not like on X-Men!) but more so things that affect our immune system and make it prone to mistakenly seeing our own body tissues as the enemy. That is why in this age of genetic testing that is widely and easily, albeit expensively, available, we can learn a lot more about what is going on in our own genome. This then can help us have a more targeted approach to treating our disease.

What is MTHFR?

One of the most common and well know SNP’s (pronounced snips) ones is MTHFR. This is by no means the only one, its affects though are quite common and are relatively treatable. ( although not everyone requires treament).

This is a gene that is involved in the enzyme process of methylation in the body. No, it doesn’t stand for what you think it does…though it does help to remember it! 🙂

It does in fact stand for Methylene tetrahydrofolate reductase.

Methylation is a process that helps the body to detoxify. Methylation turns enzymes on and off, turns on tissue repair, turns off inflammation, gives us energy, as part of the ATP cycle and supports mitochondrial energy.⁠1

If you have this gene and it is expressed, it means that you cannot convert the synthetic folic acid into the active folate in the body. Folate is found in food like spinach and other green leafy vegetables. The synthetic form is found in lots of supplements. If you have this genetic polymorphism, then you cannot absorb folate and not only do you become deficient in it, but also the synthetic folic acid also has a toxic effect in the body and prevents the conversion to the active folate.

It’s pretty scary when you think how many of us take folic acid in vitamin supplements and of course it is in every prenatal vitamin. This is a problem for people with MTHFR gene mutation, as we need to take methylated folate and methylated cobalamin (Vitamin B12) to fully absorb it. Having this gene predisposed one to infertility, miscarriages, thyroid disorders, fibromyalgia, depression and cancer.

MTHFR is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation.

Therefore, having this SNP also may cause one to have high levels of Homocysteine in the body. This can be a much better predictor for inflammation and the risk of heart disease than cholesterol levels.

Sometimes treatment is needed for MTHFR genetic polymorphisms and sometimes it’s not. One of the most important things though is to make sure you not to take in any form of synthetic folic acid, whether in the form of supplements or food fortified with it. The folic acid itself can block the conversion to folate. Some people reposed well to take methylated folate and methyl B12. I personally find it helpful, while other people react badly. There is so much information out there about this; so, do your research and work with your doctor to try see what may help you.



1 http://www.mthfrsupport.com.au/what-is-mthfr/


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