What is the MTHFR genetic SNP that 60% of people carry?

An image of a man with a dna in the background.

When you become chronically ill you might ask, “Why me?” Many people question why they develop significant long-term health challenges when their friends seem to be much luckier whilst eating the same sort of diet and leading a similar lifestyle. This bad luck can sometimes boil down to carrying a very common inherited gene called MTHFR.

Since many people are talking about the influence of MTHFR on overall health and curious to know how it affects them, I thought I would do a deep dive so you can learn more and adopt the right diet and lifestyle to thrive with it, if you have it.

In many people’s genetic blueprint lies an inherited alteration to their genetic code which can affect the processing and synthesis of a key vitamin known as vitamin B9 or folate. The folate pathways in the body are akin to a control centre for many complex and important bodily processes that keep our cells, and nervous system working efficiently. They prevent the build up of inflammation and pollutants in the body.

This altered genetic code is known as a single nucleotide polymorphism or SNP with a long convoluted name: Methylenetetrahydrofolate Reductase known as MTHFR. When you carry this MTHFR genetic code, the folate pathways can be compromised to some degree, especially if you pair it with certain diet and lifestyle habits.

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A quick MTHFR masterclass

MTHFR has been found to be a key genetic SNP that is involved in the development of aberrant biochemical pathways within the body, which can contribute to a whole host of difficulties, including multiple miscarriages, tongue-tie, developmental disabilities, autoimmune diseases, neurological conditions and cancers.

Estimates vary considerably on how many people carry one MTHFR “allele” (inherited from at least one parent) and the main SNP that has been studied is the MTHFR C677T version. It is thought that around 60% of the global population carry MTHFR C677T from at least one parent, which can compromise folate metabolism to some degree. If you carry a double MTHFR SNP from both parents, then you will find it even harder to metabolise man-made folate or vitamin B9. There are other SNPs such as MTHFR A1298C as well as the DHFR family of genetic SNPs that might also mean you need to be aware of your vitamin B9 status.

The MTHFR and other folate SNPs are relatively easy to test via a cheek, saliva or blood DNA test. There’s nothing wrong with you if you have MTHFR, but traditional wholefood diets are going to suit you even more than most people, compared with an ultra-processed diet.

So knowing you have these genetic SNPs can be quite motivating for you to stick to eating a healthy “folate optimising” diet and learn to follow a positive lifestyle that supports your genetic predisposition. Let’s look at what are the most important factors to consider:

The vital role of the right dietary folate

Folate derived from a natural diet helps kick-start a mechanism called methylation within the body, which ultimately leads to the production of a master antioxidant called glutathione. Glutathione protects us from inflammation, helps us to repair oxidative stress, prevents neurological damage and autoimmunity from developing and can protect us from producing cancerous cells. So, you can see how optimising folate is an incredibly important part of nutrition which we must focus on when striving to keep healthy. Folate that is in the form that is easy to synthesise is naturally present in salad leaves, green vegetables, eggs and pulses. You also find in supplements that use bioavailable forms of folate such as methyl tetrahydrofolate, folinic acid or calcium l-folinate.

Synthetic folic acid is a whole different story. And the key problem when you carry an MTHFR SNP it that this version of genetic code makes it much harder to metabolise any man-made vitamin B9. This folic acid form of folate is found in most mainstream multivitamins or vitamin B complexes as well as fortified foods such as some breakfast cereals and ultra-processed foods. Bread and flour in some countries are fortified with synthetic folic acid, but this practice is not routine in the UK yet. But always check all the same and look out for folic acid on the ingredients list on the label.

Food manufacturers use synthetic folic acid to compensate for low levels of natural folic acid in our modern ultra-processed diet. But this is no help for the large number of people with MTHFR.

High serum blood levels of vitamin B9

Paradoxically, people with MTHFR might find that their serum blood levels of folate are at a good level or even on the high end, despite having challenging health symptoms associated with low folate levels and poor methylation. First symptoms of a folate deficiency can be tiredness, fatigue and lethargy as well as muscle weakness. Neurological signs are also common such as a feeling of pins and needles, tingling or peripheral neuropathy.

This paradox occurs because the synthetic folic acid has got stuck in the blood and cannot methylate (break down) into the usable form to help make the important antioxidant glutathione and is not able to reach the cells to be use properly. A urinary organic acid test can check for a more accurate marker for utilised folate. This is called Formiminoglutamic acid (FIGLU) and if it is raised then there has been a problem converting the vitamin B9 in the blood into the necessary form so that it can travel down the biochemical pathway to be  involved in the production of glutathione.

Living with an MTHFR SNP

Knowing that you are someone who carries the MTHFR genetic SNP can often be overwhelming, but remember that genetic changes such as SNPs, or alterations in our genetic pathways or code, are the result of evolution and are passed down from one generation to another. They are a testament to the lineage of our ancestors and important information to acquire if we want to make positive and educated steps to enhance our health.

So, if you’re someone who carries the MTHFR genetic SNP, or you strongly suspect you probably do… maybe because autoimmunity, neurological disease and cancer has affected your close relatives, the key to managing its negative effects lies in adopting certain lifestyle and dietary changes for the very long term.

MTHFR diet & lifestyle tips

  • Steer clear of synthetic folic acid – First and foremost, it is advisable to avoid synthetic folic acid, which is often added to multivitamins and fortified foods like breakfast cereal. If you do need to take a folate food supplement, then opt for a methyl tetrahydrofolate, folinic acid, or calcium l-folinate. It’s also beneficial to increase your intake of folate-rich foods, such as leafy green salads, green vegetables, pulses, and eggs.
  • Eat natural foods – Next, prioritise the purity and nutrition of the foods and drinks you consume. Avoid ultra-processed foods where possible and aim to eat more whole, unprocessed foods that are rich in natural nutrients. If you can afford organic, that is even better. Also, filter your water to rid it of any harmful contaminants such as heavy metals, plastics and synthetic hormones.
  • Eliminate pollutants and toxins – Reducing your exposure to potentially harmful pollutants is recommended as the detoxification pathways are usually comprised when you have MTHFR. Avoid plastics and household chemicals and choose natural alternatives where possible. The same goes for avoiding pesticides, so wash and peel your non-organic grains, salads, fruits and veg. Your skincare and makeup routine should also aim to embrace the “clean and green” approach, as many conventional products contain chemicals such as phthalates which can contribute to an already overburdened system.
  • Limit dairy and gluten – Lastly many people who carry the MTHFR SNP find that keeping their dairy and gluten consumption to a minimum can help how they feel on a daily basis. Often they feel better if they choose dairy products containing A2 proteins such as goat, sheep, buffalo, and ancient grains like organic oats, spelt, or kamut rather than the harder to digest A1 cow milk products and refined grains.

Round up

Managing and educating yourself and your family about the MTHFR genetic variant means that you are arming yourselves with the knowledge to make informed decisions for long-term health and wellness.

If you are curious as to whether you or your child have inherited one of the MTHFR or associated genetic SNPs and would like to organise genetic testing; and you wish to gain a full and detailed individualised interpretation of the results. Then get in touch with our NatureDoc Clinical team who would be happy to work with you to understand how to support you to become the best version of yourself.

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