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  • Tracy Hagler

What exactly is MTHFR gene mutation & what possible role does it play in mental & chronic illness?

Today we will discuss the MTHFR gene mutation, what it is and its possible link to chronic illness and mental illness. Since being diagnosed with me/cfs, pots, hypermobility syndrome and fibromyalgia, I've become familiar with the MTHFR gene mutation and it's possible effects on the body.

To understand it completely we must first understand what function the MTHFR gene performs inside the body. What is this gene and what exactly does it do?

MTHFR stands for methylenetetrahydrofolate reductase. This is one of the most important enzymes in our bodies. The MTHFR gene mutation is responsible for producing this enzyme. This enzyme is responsible for what we call methylation. Methylation is important and takes place in every cell in our bodies.

So now you're probably asking, "What is methylation?"

Well, methylation is a pretty big deal. The methylation cycle helps us to operate mentally and physically. It's like a biological on and off switch for certain systems of the body. Methylation plays a huge role in maintaining important functions in our, neurological, cardiac, immune and detoxification systems. So you can probably imagine why some people would have symptoms or illnesses from the MTHFR gene not working properly.

Below is a short list of some of the functions of the MTHFR Gene. This is not a complete list and only covers some of its functions, but the ones that are listed are important for what we are discussing today.

The MTHFR Gene causes methylation which performs these functions below .........

- Converts amino acids into active forms that can be used by the body. Coverts folic acid into the active form methylfolate (B9)

- Helps produce neurotransmitters, (serotonin, norepinephrine and dopamine) chemicals that help regulate mood.

- Detoxes the body of illness causing toxins and heavy metals.

- Repairs our cells and DNA while helping our cells produce energy (**cellular energy, which is something that is lacking in those of us with me/cfs)

- Helps with formation of red and white blood cells

- Glutathione production

- Healthy immune system function

- Histamine breakdown

- Conversion of homocysteine into methionine which then produces the antioxidant SAMe

So, what is the possible affects of having a MTHFR Gene mutation and what exactly does all this mean?

The answer can be complicated. I've done an extreme amount of research and have found that some scholarly articles claim that MTHFR gene mutation is common and doesn't cause much harm and others claim that MTHFR gene mutation can be linked to serious physical and mental illnesses. It seems that some people with the MTHFR gene mutation may never have any issues, however, others may experience symptoms and illness.

So Today, I will share what I have researched and I will give you my personal opinion on this topic. It's always a great ideal to advocate for yourself and do your own research.

We are often lacking in knowledge when it comes to knowing the importance of amino acids, vitamins and antioxidants and how important they are to the healthy functioning of our bodies. Food and supplements can be healing medicine for our bodies, however the wrong ones can be like poison. Our bodies are all so completely different. The same rules don't pertain to everyone. We all have to figure out what treatment plan works best for us.

If the MTHFR gene is responsible for all these bodily functions listed above, then when you are found to have a MTHFR gene mutation, which means the gene isn't functioning properly, then it's possible that you could be having symptoms.

When the MTHFR gene isn't working properly and methylation isn't occurring, the body can become deficient in folate (B9), vitamin B12 and vitamin B6. Remember, the MTHFR gene is responsible for converting folic acid into the active useable form methylfolate. Methylation is also needed in order to activate your B vitamins into a source that can be used by the body. Therefore, you can be taking a folic acid supplement or a daily vitamin containing folic acid and B vitamins and it may not matter. If the methylation cycle isn't taking place then folic acid and your B vitamins aren't getting converted into the active form. Therefore, folic acid could possibly build up and may become toxic to the body.

The methylation cycle is like a production line in a factory. There are several different jobs that have to be done in order to finish the product. If anything is missing the next person can't perform their job. Same scenerio with our bodies. If our bodies can't convert folate and B Vitamins we can become deficient in them. If these conversions aren’t happening then our bodies can't produce two more very important pieces to the cycle, SAMe and glutathione. So imagine our bodies going for years without these very important functions taking place. Our bodies are not getting vital vitamins, enzymes, antioxidants and amino acids that are needed for it to properly function.

A deficiency in B vitamins can also cause an increase in homocysteine in our blood. The active form of folate (methylfolate) is what breaks down homocysteine. When this part of the cycle doesn't take place then homosysteine levels become high in our bodies and can cause wide spread inflammation and has been linked to heart disease.

The breaking down of homocysteine produces methionine which then produces the antioxidant, SAMe. SAMe is a crucial DNA methylator. When SAMe isn't produced it can't do its job of giving away its methyl group to other substances. Therefore, this affects our detoxification, neurological, cardiovascular and reproductive systems and they may be unable to perform their functions properly.

As I was saying earlier, the MTHFR gene mutation also affects another important antioxidant in our body called glutathione. Glutathione plays a main role in our bodies ability to detox harmful chemicals and toxins that can cause disease in our bodies. Therefore, some people who have this gene mutation may be more susceptible to illnesses caused by mold or toxin poisoning. They can also be more susceptible to anxiety and mental health disorders. When we have oxidative stress and an accumulation of toxins in our bodies, this can also cause premature aging. Oxidative stress is an imbalance in antioxidants and free radicals. Free radicals are unstable molecules that can cause harm in the body. I hope all this is making sense so far.

The MTHFR gene mutation is thought to possibly be associated with several different chronic diseases and mental illnesses. However, having a MTHFR gene mutation doesn't mean that a person will experience any health issues at all, it just places them at risk.

Below is a list of possible illnesses that may be linked to the MTHFR gene mutation....

- Fibromyalgia

- Chronic Fatigue Syndrome

- Stroke

- Heart Attack

- Schizophrenia

- Bipolar Disorder

- Autism

- MS Multiple Sclerosis

- Parkinson's Disease

- Irritable Bowel Syndrome

- Depression and Anxiety

- Frequent Miscarriages

- Blood clots

What are the most common variants to look for in the MTHFR gene mutation?

You can look at the MTHFR Gene like a vehicle. If your gene has a mutation, then this means your vehicle isn't functioning properly. It's like a car trying to run on a flat tire. If it keeps running on a flat tire, other things are going to eventually malfunction. The two primary MTHFR variants are A1298c and C677T. They can be heterozygous or homozygous. For example, you can be heterozygous for A1298c which means you only have one defect in the MTHFR gene. However, you may be homozygous for A1298c which means you have two copies or defects in the gene. If you are heterozygous, your gene and methylation may only be working at 70 percent compared to the normal 100 percent. If you are homozygous, this means that your gene may only be working at 30 percent of what it normally would. Therefore, having a homozygous MTHFR gene mutation can put you at greater risk for problems than heterozygous. This works the same for the variant C677T.

It seems that the variant that puts us at the greatest risk for illness is when we are heterozygous for both the C677T and the A1298c.

I am heterozygous A1298c and my teenage daughter is homozygous A1298c. We neither one have the variant C677T gene mutation. I was diagnosed with ME/CFS, POTs, fibromyalgia and hypermobility syndrome almost two years ago. I thought I was super healthy up til then. But now looking back, I struggled with things as a child that other children didn't struggle with, heart palpitations, stomach issues, anxiety and feeling faint. I just thought it was normal, non serious issues that everyone dealt with and I didn't want to complain. I just sucked it up and never thought anything of it. I could function, so I pressed on with life. I was like a vehicle with a flat tire, only I was still trying to drive down the road. I didn't truly start malfunctioning with debilitating symptoms until I was 35. I went from functioning at a high speed level of life to a complete halt of not functioning at all. It all happened very quick and started with a trigger, as many autoimmune or chronic illnesses do. Whether the MTHFR gene mutation has had anything to do with me becoming ill, well, I can't be for certain. However, seeing the important roles that the MTHFR gene plays in the body, I do think it may have played a part. This is just my opinion and should not be taken as medical advice.

I also see similar symptoms in my daughter. My "mom goal" is to provide her with enough knowledge now, so as she becomes an adult, she will be able to make healthy choices for herself. I want her to be prepared in the places that I wasn't. These gene mutations are passed down from our parents. Therefore, chances are higher for our children having them if we have them. It's always a great ideal to get them checked and let them get a head start on getting it under control.

Although, we can't change our genes, there are steps that we can take to improve and possibly bypass the affects of the MTHFR gene mutation. It all starts with food, diet and supplements. I know that sounds cliche', but it's true.

I want to share with you a list of foods and supplements that my daughter and I use. Changing our diet has been a little difficult, to be honest we didn't have the best diet before. We weren't horrible eaters but we weren't the best either. Our meals were packed full of dairy, gluten, enriched cereals and enriched breads (which was our absolute favorite). We could go to the steakhouse and eat eight dinner rolls before our meal even came out. We were total carb junkies. Can anyone else relate?

You are probably thinking, "What's wrong with milk and enriched wheat bread?" Any food product that you find that says "enriched" or "fortified" has added vitamins and may include synthetic man-made folic acid (Including many of the cereals that our kids love to eat). For the normal person who doesn't have a problem converting folic acid into the active form, this is a great thing. But for those of us whose bodies have issues methylating, this can be a problem. A good rule of thumb that I have been using for my family, has been to avoid enriched and fortified foods. Many breads have enriched flour in them. However, many gluten free products do not. So we tend to eat gluten free products, as often as possible. I've been able to find many great tasting cereals that aren't enriched with folic acid (at my local health food store). Instead of dairy milk, we drink rice milk instead. The rice milk at our regular supermarkets are all enriched, so we also buy the organic brand from the health food store. We always try to check the labels before consuming. I also try to keep our foods as raw and as unprocessed as possible.

So needless to say, it's been a very slow process of diet changing in our home.

What vitamins and supplements do I take to assist my body in the things it is lacking due to the MTHFR gene mutation?

First, my doctor tested me for the MTHFR gene mutation variants. Second, when I was found to be positive, my doctor ordered lab blood work and other testing. All of which showed that I was deficient in folate (B9), Vitamin B12 and Vitamin B6. This was the first process in knowing if and what my body was lacking in. Like I said before, not all people with the gene mutation is lacking in vitamins or have any symptoms. It's always safe to check lab values before starting any vitamins or supplements. There can be severe adverse effects to having too much of a vitamin in our bodies. These levels should always be monitored by our doctors to keep us at a safe level. We should never just rush out and start taking supplements, without knowing our lab levels. Most of us are usually already sick with a chronic illness when we find out that we have the MTHFR gene mutation. We have so many things going on in our bodies other than just the gene mutation. We should always work with a well trained doctor and try to get all things in order. And this may not mean immediately starting supplements.

In my case, my doctor prescribed a supplement called Rheumate. Rheumate is considered a medical food product and can only be dispensed by prescription. Rheumate contains 1mg of L-5-methyltetrahydrofolate (the active form of folate) and 1mg of methylcobalamin (the active form of B12). It also contains a natural antinflammatory called Curcuminoid turmerone complex (500mg). Since my body has a hard time converting these vitamins into the active form, this capsule already contains the active form so that it can bypass the need to be converted.

I buy the rest of my vitamins from the local health food store.....

Coenzyme Active B6 caps P-5-P/PAK - Which is the active form of vitamin B6.

Reduced L-Glutathione 250mg (Free form antioxidant support) - This is also the active form of glutathione. I take this because having a faulty MTHFR gene could possibly mean that I'm also lacking in glutathione which is very much needed by the body to assist in the detoxification of toxins and free radicals.

Enteric-coated SAMe 200mg - Remember, earlier we talked about how the MTHFR gene mutation could possibly affect the production of SAMe, as well.

My body is very sensitive, so I started out taking the smallest doses of these supplements.

What do I need to look for after my Doctor decides to put me on supplementation?

I want to also give you this very important piece of information. In the beginning of my treatment plan, I was taking these supplements every day. But I was also aware that I needed to look out for signs of what they call overmethylation. You see, once our bodies get these vitamins that they have been lacking, there is a risk that our bodies can overmethylate. It's a lot for someone's body when the methylation cycle has only been working at 10%-30% and now all of a sudden it's getting all these supplements to methylate. If your doctor finds you deficient and decides to put you on a treatment plan of supplements, he/she will probably educate you on the signs of overmethylation and what to look for. I say this because my first month of taking these supplements, I felt so much better. But then at the two month point, I started experiencing symptoms of overmethylation and had to decrease my supplements. When patients become overmethylated they can increase in levels of norepinephrine, seratonin and dopamine. This may be the chemicals that we were lacking before (low levels may have been contributing to mental health issues) but now we could possibly be producing too much. Having too much can also cause mental health issues. Our supplementing should always be a slow, balanced, doctor supervised process. It took years for our body to get in this shape and it may take just as long to get everything straightened out and back in line.

Possible signs of overmethylation are.....

- head and neck pain

- the tendency to ruminate thoughts

- depression

- paranoia

-histapenia (a shortage of histamine in the body)

- anxiety

- suicidal thoughts

I’ve never experienced any adverse mental health issues while on supplementation. However, I did experience head and neck pain two months into supplementation. My doctor and I recognized this symptom as a sign of overmethylation. He decreased my supplements and tailored my treatment plan to what my body was telling me. We also rechecked vitamin levels to see what needed to be readjusted.

If this is something that you feel you should be tested for, I highly recommend that you find a doctor who is knowledgeable in the MTHFR gene mutation and supplementation. A doctor's supervision is a must when going on supplements. And remember, not all doctors feel the same about this subject. I've had some doctors tell me that there is no correlation between the MTHFR gene mutation and chronic illness or mental illness. These doctors don't feel any need to test for it or to do any supplementation. However, I've had other doctors insist that there is a link between the gene mutation and chronic illness and mental health disorders. These types of doctors have mostly been those who practice functional medicine. They are usually educated on the MTHFR gene mutation, testing and supplementation.

Hopefully, this has helped you understand a little bit more about the MTHFR gene mutation. You are the patient and no one knows your body and symptoms better than you do. Please self advocate for your health and always do your research on your illness and on the doctors in whom you are entrusting your health to. Always get multiple opinions and find what works best for you! Also, keep in mind, not everyone with this gene mutation will be affected in a negative way. In spite of the mutation, their body may be methylating just fine.

If you suffer with fibromyalgia, me/cfs, pots or eds, this might be another interesting read for you. In this blog post, I share my recent health update and also talk about treatments that are helping and treatments that have not.

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