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MTHFR Testing, what is it, and some tips on what to do if you have an MTHFR SNP.

Updated: Nov 21, 2023

If you are one of us who like to keep up with new research coming through on health, you may have heard or read about the MTHFR gene.

Approximately 50% of the population have this SNP/ mutation to some degree.

A couple of years ago I had this test. There were a number of reasons why I wanted to get this test done; I was keen to know my own MTHFR profile done (see below) and secondly when I recommend a test to my clients it is helpful to have personal experience with the testing procedure myself. This also helps me as a practitioner be more able to identify the concern/questions that a client may have.

I also wanted to be able to share the information with my family members about whether there are specific health issues that they may be predisposed to, and this gives them the opportunity to implement the necessary lifestyle and dietary recommendations that may be important to implement. (Well to be honest, as you will read below, those strategies are an important priority for all people, regardless of health.)

However, my main motivation for getting this test done was so that I could have insight with where I need to support my own detoxification health. I have had some ongoing health issues, and the new research out links quite a few of them (fibromyalgia, many female hormonal health problems over 3 decades, and a past history of migraines, pre-eclampsia, and insomnia, plus growing up on an orchard where there were many sprays used) Plus I was coming up to my mid 50s (that came around very fast!), so high time to get serious about having great health!

I suspected there was a serious likelihood of reduced MTHFR enzyme activity, and I was interested to see whether I have this defective gene and to what level the enzyme activity is affected. (Of course, as mentioned below, just having the mutation does not mean everyone develops serious health issues, that depends on many factors).

A simple explanation:

This simple test will determine how your MethyleneTetraHydroFolate Reductase (MTHFR) enzyme is functioning. This enzyme helps to convert folic acid to folate. Having a 'weakness' or genetic SNP with this gene can be associated with a range of health conditions such as: cardiovascular disease (such as migraines and blood clotting disorders), some mental health conditions (such as depression, anxiety), some hormonal issues, and a reduced ability to methylate.

Methylation is involved in many, many processes in the body including fighting infection, switching genes on and off (epigenetics), detoxification of environmental toxins and making neurotransmitters.

Environmental toxins are widespread in our current world - from herbicides, insecticides and other sprays, to heavy metals, fuel, paint fumes, other chemicals used in various industries, to additives and preservatives in foods, cleaning products, skin care, hair dyes and more.

The 2 MTHFR genetic SNPs* that are most commonly tested are A1298C and C677T.

We each have 2 copies of both A1298C and C677T.

A heterozygous result means we have one good copy and one mutated/ weak copy of the gene variant.

A homozygous result means we have two mutated or weak copies of that gene variant.

(And those who have 2 good copies of the SNP are called homozygous wild type.)

So my results came back as heterozygous for the A1298C gene mutation. This means I have one copy of the A1298C mutation (and one good copy). For the C677T I don't have a mutation (so two good copies)

What does that mean? It means that my MTHFR enzyme has a 20% reduction in activity. (It could have been up to an 80% reduction if I'd had more defects.) Other people I have had tested have had mutations for the C667T, which causes up to 30-40% reduction of the enzyme activity, or one of both which has an added cardiovascular risk, and 40-50% reduction in enzyme function.

So what do I recommend for clients who have this genetic weakness?

Firstly, we are born with our genetic profile, and having a genetic weakness/ mutation doesn't necessarily mean that we will develop the symptoms or diseases. There are many factors involved: which includes our lifestyle, how we manage stress, whether we get enough sleep, what we eat, how toxic our environment is, as well as what our personal genetic profile.

Stress plays such a big role in our health! Never underestimate the effect that chronic stress can have on your health.

In general, the first steps you can implement are:

1. Eat foods to support methylation such as those containing folate and B12 (citrus fruits, avocado, nuts and seeds, legumes, broccoli, green leafy vegetables, fish, eggs, beef, shellfish, seafood)

2. Drink filtered and chemical free water

3. Reduce exposure to foods that contain synthetic folic acid (cheap or lower quality supplements) contains this synthetic folate, which is difficult to process and interferes with the natural folate conversion into methyl folate. Folic acid is found in processed food and fortified (enriched food): rice, pasta, cereals, white flour, bread (look at the label) Since August 2023 it has been deemed mandatory to add it to non-organic flour in New Zealand.

4. Limit exposure to toxic substances in foods. This includes alcohol, GMO foods, processed foods, sugar, additives etc. (See the Chemical Maze book to learn more)

5. Eat organic, free range foods wherever possible.

6. Avoid environmental toxins. These include sprays, heavy metals, pesticides, herbicides. Read my article here

7. Use a good Hepa air filter to purify the air in your home

8. Choose natural fibre clothing and furniture (they won't contain flame retardant chemicals)

And don't forget to reduce and manage stress!

If you would like to have this test done for yourself, it is easily done in clinic. The cost is $185.00 You will need to book a naturopathic consultation to discuss the results and so I can advise you on the best plan of action for your future.

*SNP stands for single-nucleotide polymorphisms

There are research papers available linking psychiatric illness with MTHFR gene. If you would like to read more here is a link to one abstract.

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