MTHFR – The Mother F***** Gene (2024)

Throughout my fertility journey, as hard as it has been, I have been given the opportunity to extensively run some genetic tests on my body, which has been fascinating. Not something you would ordinarily do, but if you’re looking for answers then wherebetter to check the blueprint of your makeup than looking at yourgenetics. Thankfully I’ve had many tests done to check to see why I have miscarried and why the process of falling pregnant naturally is taking longer than we would like.

A couple of weeks ago, amongst the many reports of awaited test results, which thankfully all were ok but one, I was informed that I am carrying two copies (hom*ozygous) of the MTHFR gene c.665C>T variant. I am sure when reading this you’ll think, what does that mean? Well that’s exactly what I thought. From doing an extensive amount of research on this genetic disorder, it’sbetter known to some as the Mother F***** gene! MTHFR, short for Methylenetetrahydrofolate Reductase, is a very important enzyme in the body.

It’s an essential enzyme involved in the process of methylation – and this is particularly important when pregnant as this process also involves the creation of DNA. Methylation is also essential to convert both folate and folic acid – each a form of Vitamin B9 – into its active, usable form called 5-MTHF.

It’s estimated that around 60% of women carry this gene and this makes it genetically difficult for them to convert folic acid to folate. Folic acid therefore is not the supplement such women are advised to be taking, as they can’t convert it to its biologically active form in the body.

But on a positive note, this gene mutation isone that can be maintained and corrected positively through diet, lifestyle and supplements. Thankfully, as many of you may know,my recipe repertoire and style of eating tends to be focused on consuming a diet and lifestyle that is as natural as it can be. So thankfully I haven’t had to make too many adjustments.

For years my body has struggled with many attributes which come under the symptoms associated with MTHFR. As soon as I researched the gene further, I started to put two and two together.

Since childhood, and in my latter years I’ve struggled with fatigue, slow metabolism, aches and pains in my joints, migraines, depression, anxiety, autoimmune diseases, intolerances to certain food groups and since I’ve been married we’ve had two miscarriages, although sometimes I amconvinced that I have had missed miscarriages.

In 2010 I started to self-diagnose which food groups were no longer serving me, it was if my gut and mind were telling me that my body couldn’t digest or tolerate certain food groups. I decided to cut gluten, wheat, barley and rye from my diet, as I was finding that my body would feel extremely tired, with achy joints, plus I had a whole host of skin complaints on my hands and genital area. This was a sensitive issue, and when I was younger I was afraid to talk to anyone about it, as I felt embarrassed and ashamed.

Since taking the above food groups out of my diet, over the latter years I was still finding certain ingredients were giving me flare ups, by either feeling bloated, itchy in the genital area or on my skin (hands and legs). At the age of 11, I contracted an autoimmune disease after being scratched by a cat (I am allergic to cats) called Morphia scleroderma. Morphea is an autoimmune disease that causes sclerosis, or scar-like, changes to the skin. Autoimmune diseases occur when the immune system, which normally protects us from bacteria, viruses, and fungi, mistakenly attacks a person’s own body tissue. Morphea is usually asymptomatic, with the occasional itch and rarely pain. I have the scars on my legs, ankle and back. Morphea usually begins as a red or purple area of skin that then becomes thickened and white. Over the years the colour, which was once dark, has now changed to a light brown. I spent my teenage years embarrassed of the scars, and people would ask me if my parents beat me up, as I had dark bruise like scars which were very prominent. I still have several diaries which I wrote as a child detailing how much I hated them, and how I wish they would go. Recently I found that when I ingested certain food groups, my leg would be continuously itchy.

Therefore based on keeping a food diary, I then cut out the following foods listed below; –

Corn base derived products, such as cornflour, cornmeal and popcorn
Soy based ingredients (even gluten-free tamari sauce doesn’t agree with me)
Paprika
Oats
All nuts and tree nuts
Coffee

When I carried out my research into the MTHFR gene I started to see a connection to the food that we should avoid, and then everything started to make sense.

When I started my fertility journey through trying to conceive naturally, I was very kindly gifted with Pregnacare from Vitabiotics. I started taking them, although after a couple of weeks I couldn’t for the life of me understand why I was blowing up like a balloon. I even questioned Vitabiotics, to find out is this a common reaction? However, when I explain below to you what MTHFR is again, it all stacks up as folic acid is a big NO NO for anyone with MTHFR.

What is MTHFR Gene Mutation?

Let’s start with the basics. Your body’s processes are run by your genetic code, which is made up of billions of unique copies of DNA. Even though you inherit this genetic code from your parents, your DNA still changes throughout your entire life.

Genes are a segment of DNA, and each gene provides a particular set of instructions, usually coding for a specific protein or a particular function.

MTHFR contains the code that helps your body make methyl-folate from folate-containing foods. This nutrient helps your body complete a variety of different processes, including metabolizing key nutrients and detoxifying, which is essential in keeping our bodies up and running optimally.

MTHFR is a gene that provides the body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid, MTHFR converts it into methyl-folate (folate’s active form).
Methyl-folate is critical to methylation, which helps to optimize a huge number of processes in your body including the production of DNA, metabolism of hormones, and proper detoxification.

There can be one abnormal variant (heterozygous) or two (hom*ozygous), which are passed down from parent to child. In my case I have a double strain passed from both my parents. Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a hom*ozygous mutation is higher. The more variations you have, the more issues your body will have with methylating.

A MTHFR gene mutation may change the way you metabolize and convert nutrients from your diet into active vitamins, minerals, and proteins your body can use. This genetic mutation may also affect hormone and neurotransmitter levels, brain function, digestion, cholesterol levels, miscarriage and complications in pregnancy and more.

What to avoid and what to enhance

Avoid

Avoid all products with added or fortified folic acid which is the synthetic form of vitamin B9 found in fortified supplements (pregnancy supplements) breads, cereals and commercially produced flours. Avoid processed foods that have synthetic folic acid added to them.

Reduce your exposure to toxins, use eco-friendly cleaning products, washing detergents, beauty and skincare. The fewer toxins near your body the easier time your insides have in breaking down toxins. Avoid exposure to toxins like chemical house cleaners. They can inhibit methylation, among other things.

Avoid the consumption of alcohol or limit it to the bare minimum. When choosing your options, it’s better to keep to spirits rather than wine and beer (beer contains malted barley, wheat and hops).

Reduce the amount of inflammatory food such as refined sugar in your diet and that goes for natural sugars too, sweeteners and artificial sugar replacements.

Reduce the limit of fried foods, and additionally, if you have increased intestinal permeability, or “leaky gut”, it is more likely that your immune system may respond to potentially allergenic components in milk and dairy products. Therefore, try to limit the amount in your diet or switch to plant based options or goat’s or sheep’s milk. Keep to full fat options, as you’ll find fewer additives and preservatives there. Opting for goat’s or sheep’s milk are less likely to cause gastrointestinal symptoms and inflammatory responses when consumed. For an added bonus, goat and sheep are also less likely to be factory farmed and therefore, have reduced amounts of added chemicals, hormones and antibiotics in their feed and environments in comparison to cattle.

Enhance

Take supplements such as B complex (b2,6 & b12) and methylfolate 5- MTHF (this essential B vitamin promotes methylation. I am taking the brand THORNE.

Increase the amount of wholefood green leafy vegetables which are high in natural folate, the raw form is best asparagus, lettuce, kale, broccoli, spinach, Brussels sprouts, avocados, lettuce and lentils. Make sure your diet is high in protein which can easily be added to mealtimes, from animal proteins such as fish, eggs, bone broths, to seeds such as flax seed and chia seeds. Starting your day with a green smoothie is a great way to incorporate folate in a natural and absorbable form.

Ensure that you get a good level of exercise, and enjoy the outdoors and spending time in nature, move and sweat regularly and maybe end your evening by detoxifying in an Epson salt bath. I would have also suggested that it’s highly recommended to have a sauna, (however during these times of Covid, unless you have a sauna you might have to have a hot shower to create a steam room!).

Repairing the digestive system and optimizing the flora (gut) should be one of the first steps in correcting a methylation deficiency, and that includes treating yeast infections such as candida because of the toxins it releases, inhibiting proper methylation.

Manage your stress levels, by taking to pilates, yoga, thai chi or meditation. High levels of stress can exacerbate MTHFR mutation symptoms.

Keep a daily food diary of what you eat and when, as well as if you had any bad reactions or symptoms. Doing this consistently for several weeks allows you to visually identify trends between what you eat and the symptoms.

Complications in pregnancy

Recurrent miscarriages and neural tube defects are potentially associated with MTHFR. The Genetic and Rare Diseases Information Center says studies suggest that women who have two C677T variants are at an increased risk of having a child with a neural tube defect.
A 2006 study looked at women with a history of recurrent miscarriages. It found that 59 percent of them had multiple hom*ozygous gene mutations, including MTHFR, associated with blood clotting, versus only 10 percent of women in the control category.

My conclusion

Since I already focus on a lifestyle that excludes most of the foods to avoid, my job now is to increase my intake of folate at mealtimes and through supplementation as I’ve mentioned above. I am finding new ways to incorporate this into my lifestyle and I think this is personally a case of being able to finally understand why I have always had issues with chemicals (they have always affected me massively, when I walk into a room which had just been bleached, I have to walk straight back out) and need I say more about knowing why certain food groups have never agreed with me!

On a personal note, having always suffered with weight issues, I guess there was a sense of relief, as it helps explain why I have always struggled with my weight. Thankfully at my age 42 (almost 43), I can safely say that I have come to understand the importance of having a good relationship with food, and trusting that the foods that I avoid are not from fear of putting on weight, but are actually rather from knowing that my body cannot function with them.

As always I am constantly researching to get a better understanding of MTHFR, after all I always believe that the best doctor is the one inside you. It will always lead you to your gut instincts when something isn’t right – your body will find a way to let you know.

It’s important to note that MTHFR mutation itself is not inherently dangerous… but any form of genetic variance has the possibility to affect your health. Guidance from a Dietitian/Nutritionist or practitioner that specialises in this area is so important.

I can highly recommend Kelly Conway who is a Nutritional Therapist and Health Coach with a wealth of knowledge on this and other subjects. You can find her on Instagram @kellyconwaynutrition or her websitewww.kellyconwaynutrition.com

Although we are born with certain genes, we do have some influence over whether these genes express themselves or not. This is a new area of research called Epigenetics – whereby we can actually determine which genes are active and which lay dormant – all depending on what we bathe those genes in. So our food, stress, environment and lifestyle all play a role in which genes are turned off and which genes are turned on, and that is what I am working on.

Reference

I am currently reading a book called “DIRTY GENES” by Dr Ben Lynch – Regain control of your genes. I was highly recommended this book, so let’s hope that this book gives me the ability to reprogram my genes to have a long and healthy life and give birth to a miracle.

For further information on DIRTY GENES visit Dr Ben Lynch