I have an MTHFR mutation: what do I do now?

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I have an MTHFR mutation: what do I do now?


I have an MTHFR mutation: what do I do now? 

I have an MTHFR mutation: what do I do now? 


If you’re reading this article, it’s probably because you’ve heard about the MTHFR mutation and its potential health risks. You may have even been tested and found that you have an MTHFR variant yourself. After all, it’s a common mutation: between 10%-15% of the Caucasian population and more than 25% of the Latino population have variations of it.

But there’s a lot of misinformation out there - so let’s clear things up right from the start.


Understanding how genes work


As you may know, every one of us is made up of trillions of cells. Each of these cells contains your genes: segments of DNA that provide a particular set of instructions for making you who you are. Or, to be specific, the coding for a specific protein or a particular function.

We each have around 20,000 genes - and just one of these is the MTHFR gene. While it may seem that one little gene in 20,000 shouldn’t have too much of an influence on our lives, the opposite is true. The MTHFR gene mutation is linked to a higher risk for many chronic diseases: heart disease, colon cancer, stroke, Alzheimer’s disease, and many mental disorders as well as neural tube defects and more. Yet many people have no idea that they have this genetic mutation at all.

We here at Methyl-Life™ are often asked, “How do I know if I have an MTHFR mutation? What can I do about it? What supplements should I take if I have an MTHFR mutation?”

That’s precisely what we’re here to tell you about and help you with!


What is an MTHFR mutation and why is it a problem?


The MTHFR gene provides your body with a set of instructions for making an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is important because when you eat foods that contain folic acid, MTHFR converts it into methyl-folate - the active form of folate .

Abnormal variations of MTHFR can be either heterozygous (one variant) or homozygous (two variations). These variations are passed down from your parents. The more variations you have, the more problems your body will have with methylation.

Without methyl-folate, your body can’t carry out proper methylation. Methylation is crucial to the proper functioning of many different processes in your body - from the production of DNA and metabolism of hormones to healthy detoxification and cognitive function .


Mutations of the MTHFR gene can change the way your body breaks down the food you eat and converts its nutrients into active vitamins, minerals, and proteins that you can use. It can even affect your body’s levels of certain hormones and neurotransmitters, along with cognitive function, digestion, cholesterol levels, and more.


Why is methylation so important?


Methylation is a metabolic process crucial to every cell and organ in your body. It’s like billions of little switches turning on and off every second, controlling everything from your metabolism and your stress response, to your brain chemistry and detoxification.

In short, methylation is life: you would not exist without it.

One of the most important products of methylation is S-adenosylmethionine, or SAMe. SAMe is a universal methyl molecule that donates a methyl (CH3) group required for the proper function of the cardiovascular system, detoxification pathways, and neurological systems.

If your body is lacking in methylfolate, this entire process grinds to a halt. And that leads to a range of symptoms that can end up severely affecting normal bodily functions.


Symptoms of an MTHFR gene mutation


MTHFR mutations affect different people differently. Some symptoms can be barely noticeable, while others can develop into significant, long-term health issues. People with MTHFR variants are often characterized by low folate levels.

Some chronic health issues linked to MTHFR include:



  •  ADHD (Attention Deficit Hyperactivity Disorder) or autism
  • Autoimmune diseases
  • Thyroid problems 
  • Cardiovascular disease 
  • Chronic fatigue
  • Digestive issues, such as Irritable Bowel Syndrome
  • Hormonal issues, such as estrogen dominance and PCOS (Polycystic Ovary Syndrome)
  • Migraines
  • Depression
  • Schizophrenia


MTHFR and mental health disorders 


The active form of folate that the MTHFR gene is required to produce - L-Methylfolate - is the only form of folic acid that crosses the blood-brain barrier. It’s also the form that plays a role in the synthesis of neurotransmitters: particularly serotonin, dopamine, and norepinephrine. 


These are the three neurotransmitters most important for mood regulation and other nervous system functions. They’re also involved in the mechanism of action for antidepressants. Serotonin is particularly important: it’s your ‘happy’ chemical that plays a major role in appetite, sleep, and emotional health .

Unsurprisingly, this means that the MTHFR mutation is also associated with depression and other mental health disorders. Several studies have shown that those with depression tend to have a genetic variant of the methylenetetrahydrofolate reductase enzyme. What’s more, those described as having “treatment-resistant depression” are shown to have a 76% chance of an MTHFR mutation .


How to treat MTHFR mutation symptoms


If you’ve been tested and found that you do have the MTHFR mutation, don’t panic! As explained above, you may not necessarily experience all of the symptoms associated with an MTHFR mutation. Symptoms can vary depending on the type of mutation you have and whether the variations affect one or both of your MTHFR genes as well as whether or not you have other genetic variants along the methylation pathway in the body..

Making changes to your diet and lifestyle can help you optimize your body’s methylation processes and reduce the risk of symptoms.


Dietary recommendations for optimizing methylation 


Increase your dietary intake of folate


Dietary folate is NOT the same as folic acid tablets! Folate is the natural form of the vitamin as it occurs in food, while folic acid is a synthetic form. The bioavailability of L-Methylfolate is much higher than folic acid alone.


Eating folate-rich foods is a good way to improve methylation. Some of the best whole-food sources of folate include vegetables (especially dark leafy greens), fruits and fruit juices, nuts, beans, peas, seafood, eggs, dairy products, meat, poultry, and grains



Increase your dietary intake of vitamin B12


An MTHFR mutation also increases your risk of Vitamin B12 deficiency. MTR and MTRR variants are genetic SNPs (single nucleotide polymorphisms) which may significantly impact the conversion and absorption of B12 in the body.


Food sources of B12 include animal products such as fish, meat, poultry, eggs, milk, and milk products

Additional foods that support healthy methylation include asparagus, avocado, broccoli, and legumes.



Support gut health


A healthy gut microbiome will optimize your body’s ability to obtain nutrients from food, which in turn will support your overall health and wellbeing. 


Promote the health of your gut bacteria by eating fermented foods such as kimchi, kefir, miso, and kombucha. These contain natural probiotics that aid in digestion.


Reduce intake of inflammatory foods such as sugar, gluten, refined grains, trans fats, and processed snacks.


Avoid gluten-containing foods where possible. Those with gluten sensitivity and MTHFR can suffer a double blow as the symptoms of both can amplify one another. Gluten is also a major cause of inflammation in the gut lining. 


Eat more healthy fats, especially N-butyrate: a short-chain fatty acid that nourishes the cells lining the gut. N-butyrate occurs naturally in ghee and coconut oil.


Other gut-healing foods include bone broth, flaxseeds, chia seeds, and turmeric.


Support detoxification pathways


Impaired methylation can hinder your body’s ability to detoxify properly, especially in the liver. This means it’s more important than ever to support your body’s natural elimination processes.

You can boost detoxification by eating a clean, wholesome diet and taking up lifestyle habits.


  • Increase your fiber intake to 30-50 grams per day
  • Drink at least 2 liters of pure, filtered water per day
  • Eat plenty of anti-inflammatory foods: brightly colored fruits and vegetables, high-quality protein, healthy fats.
  • Avoid or limit all refined sugars
  • Get active by exercising at least five days a week for 30 minutes a day
  • Attend regular sauna treatments and Epsom salt baths.
  • Avoid or limit exposure to toxins such as artificial additives in food and chemical house cleaners. These can impair methylation further
  • Reduce or limit alcohol intake


Minimize stress levels 


Studies have shown that long-term stress results in decreased DNA methylation. In particular, there is decreased methylation of a gene called fkbp5, a glucocorticoid-responsive gene that plays an important role in the stress response .


It’s impossible to avoid stress completely, but there are lots of ways you can reduce its impact on your body.


  • Learn to meditate and engage in regular meditation practice every day
  • Start journaling 
  • Try forest bathing
  • Avoid situations, people, and environments that you know stress you out

Minimize stress levels 


Those with MTHFR are often found to be low in B12 as well as folate. These are key nutrients for those with genetic challenges. In fact, impaired methylation can mean that a huge range of important molecules may not be efficiently produced, including:


Methylfolate: The MTHFR mutation can seriously compromise your ability to convert folic acid into a form that your body can use, so it’s important to avoid any supplements or foods that contain folic acid.


Supplementation with L-methylfolate has been found to be beneficial for those with depression - particularly those who have not responded adequately to treatment with antidepressant medications.


Folate 5-MTHF has been classified as a ‘medical food’ and is also available as a dietary supplement. However, some of the best methylfolate supplements for those with MTHFR mutation include Methyl-Life™ products (Methylfolate 7.5+, Methylfolate 10, and Methylfolate 15). 


These have been created by a team of natural health experts and used successfully by hundreds of people all over the world. It’s worth noting that Methyl-Life™ recently received data from a study that showed theirs to be the purest, stable and most potent of four of the world’s industry-leading, patented L-Methylfolates. Check out the study comparison details to learn more.


Vitamin B12: B12 plays a major role as a cofactor in the methylation process of L-methylfolate. B12 is also required for the conversion of homocysteine to methionine, while the conversion of homocysteine to cysteine also requires B-6.

 

Vitamin B12 is crucial for proper brain development and is associated with one-carbon metabolism required for transmethylation reactions. It’s also involved in the formation of S-adenosylmethionine (SAMe) which we know to be the neurotransmitter generator - so this is a key nutrient to take along with L-Methylfolate for maximum effect against depression.


Supplementation with a highly bioavailable form of vitamin B12 5,000 mcg is the most efficient way to ensure optimal levels quickly. This is particularly important for vegans/vegetarians, the elderly, and anyone who is unable to absorb B12 efficiently.


Methy-Life’s™ B12 Complete is ideal for people who have MTR, MTRR, COMT, or other gene mutations that may be affecting B12 absorption. B12 Complete contains a combination of the 3 most bioactive forms of B12 for maximum delivery and absorption. The B12s within this supplement have already been converted into forms that can be absorbed and used by the body’s cells immediately. This is a full-spectrum B12 product.


Magnesium: Magnesium is an essential mineral and also a cofactor for the COMT enzyme, which is required for transferring a methyl group from SAMe to metabolize dopamine, norepinephrine, and epinephrine. 


Alongside the B vitamins, magnesium is vital in supporting a healthy mood, cardiovascular function, and nerve function. Again, be sure to maximize your supplement dollar by getting the most bioavailable magnesium version possible.


Omega 3: This essential fatty acid has scientifically proven benefits for the entire body and mind, particularly mental wellbeing. It travels easily through the blood-brain barrier to interact with mood-related molecules in the brain, and harbors powerful anti-inflammatory actions that may help relieve depression. 


Two omega-3 fatty acids in particular — eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) — are shown to provide the greatest benefits for mood disorders. A 2018 study found that doses of 1 g/DHA (from fish oil) per day have had significant benefits for depression .


NAC: (N-acetylcysteine): NAC is a precursor for glutathione, which has potent antioxidant and anti-inflammatory properties. Researchers have described NAC as a neuroprotective nutrient, 


and recommend a ‘therapeutic cocktail’ of L-5-Methylenetetrahydrofolate, methyl B12, betaine (or TMG), and N-acetylcysteine (NAC) for helping to reduce levels of homocysteine in the body, which can in turn reduce the risk for neurodegenerative diseases such as Alzheimer’s.


Glutathione: a powerful antioxidant found in every cell in the body. It’s required for fighting off free radicals, making DNA, supporting immune function, and many more important processes. It directly neutralizes free radicals, reduces inflammation, and enhances the effect of other antioxidants including vitamin C, E, and lipoic acid. 


Glutathione’s sulfur groups aid heavy metal detoxification by adhering to these toxic compounds and moving them out of the body.


Glutathione also protects vitamin B-12 from reacting with toxins and being unable to perform its metabolic tasks.


Another of glutathione’s primary roles is as a precursor for a reaction in the methylation/folate cycle. A lack of active B-12 due to glutathione deficiency can slow down both these cycles. As a result, low glutathione can contribute to the inefficiency of methylation, creating a vicious cycle and further depleting glutathione levels . 


 It’s worth noting that methylfolate promotes glutathione in the body, so if you have MTHFR and you’re low on methylfolate, chances are you’re low on glutathione as well. You may prefer to start with L-Methylfolate and then add glutathione later if you tolerate it, since the methylfolate will start producing more of the glutathione for you.


Cysteine: one of the few amino acids that contain sulfur, and required for maintaining the structure of proteins in the body. Cysteine is also an important component of the antioxidant glutathione. Rich food sources of cysteine include poultry, egg, beef, and whole grains.


Vitamin D: Vitamin D is known for its role in the regulation of gene expression via the vitamin D receptor, a nuclear transcription factor. Recent research has shown vitamin D is crucial in regulating DNA methylation, and is also involved as a mechanism of modulation of gene expression .


Recommended supplements

Active Ingredients:

Folate: 15,000 mcg from (6S)-5-Methylfolate,Calcium – Magnafolate® PRO


Methyl-Life™ Methylfolate 15 is a high dose (15 mg) of internationally-patented Magnafolate® PRO [(6S)-5-methyltetrahydrofolate acid, Calcium salt, Type C Crystalline molecule (L-Methylfolate)]. It is our best-selling, serotonin-enhancing supplement, providing essential support for healthy mood, immune system function, and nervous system function.

This unique and internationally-patented L-5-Methylfolate ingredient is crystalline calcium salt-based for superior stability and absorption. This proprietary form of methylfolate offers greater purity: approximately 3x more pure than any other competing form of methylfolate. It is also known as L-MTHF, L-Methylfolate, L-5-MTHF, and (6S)-5-Methylfolate.


Benefits of Methyl-Life™ Methylfolate 15


  • Formulated especially for people with a heightened need for folate due to genetic (MTHFR) defects, dietary deficiencies or drug-induced need (i.e. taking warfarin, coumadin, metformin, etc.)
  • Bypasses MTHFR gene mutations to optimize the body’s methylation process
  • Boosts energy and motivation
  • Helps protect against toxins and disease by boosting glutathione
  • Supports overall wellbeing
  • May reduce symptoms of depression by promoting SAMe and therefore serotonin
  • May help manage homocysteine levels caused by folate deficiencies
  • May reduce the risk of cardiovascular disease
  • Third-party testing to ensure safety and efficacy


In order to prevent masking a B12 deficiency while taking high dose methylfolate, be sure to choose an active form of B12 that can be absorbed well and transported to the cells for optimal methylation support.

Testing for the MTHFR gene mutation


If you suspect you have an MTHFR mutation, it’s a good idea to see a practitioner who understands epigenetics fully and has access to the correct tests.
A genetic test can determine if you have an MTHFR gene mutation and which variation(s) affect you. This can be done with a qualified healthcare practitioner and is usually covered by insurance. Other tests that are recommended to confirm an MTHFR mutation include homocysteine levels, hormone level testing, and microbiome labs.

    Written By,
    - Katie


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