MTHFR Might Be Why You're Sick

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The Pure TheraPro Team

The Pure TheraPro Education Team is comprised of researchers from diverse backgrounds including nutrition, functional medicine, fitness, supplement formulation & food science. All articles have been reviewed for content, accuracy, and compliance by a holistic integrative nutritionist certified by an accredited institution.
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You may have heard of MTHFR, which stands for Methylenetetrahydrofolate Reductase. It’s an important enzyme in the body, and enzymes are the spark that ignites important processes in your body. Without it, many important things don’t happen, such as absorbing certain nutrients and detoxifying cells, which is pretty important to your health. This is because MTHFR is instrumental in making methylation happen. Methylation is a metabolic process that occurs in your body billions of times a day. It’s the switch that turns genes on and off. It repairs DNA. It’s one of the most important processes in your system. Without proper methylation, you’re likely to get sick. 

It is estimated that anywhere between 30-60% of the population has an MTHFR mutation and associated issue with methylation as well as enzyme deficiency. That’s like owning a car that has no gas, no battery and no way of igniting the engine.

Most people have never even heard of methylation let alone realize how important it is to them being alive! Methylation detoxes the body, removing chemicals that could potentially cause harm. It synthesizes DNA and RNA, protects your nerves, helps you burn fat, supports your liver, constructs immune cells, metabolizes hormones and regulates them throughout your system. It helps create energy for your cells and neurotransmitters for your brain. Methylation is also responsible for turning genes on or off. It’s that key in the ignition that pretty much makes everything happen. 

Some people with MTHFR may not initially have any symptoms. However, many with this genetic mutation might notice a culmination of symptoms, which might be different for everyone with this issue. Over time, it can lead to chronic illness. The MTHFR gene mutation is associated with higher risk of heart disease, Alzheimer’s disease, autoimmune diseases, autism and other serious disease states related to inflammation. 

Without optimal methylation, toxins build in the system and create systemic inflammation. Those with the MTHFR gene mutation cannot utilize folic acid (vitamin B9) properly, which is instrumental in protecting your DNA and every cell in your body. It is estimated that MTHFR gene mutations result in up to a 70% reduction in methyl-folate than those without this genetic mutation, supporting the need to supplement. Those with MTHFR cannot simply take folic acid, which is commonly the form of vitamin B9 on the market today, however, they should consider supplementing with the natural form, methyl folate, in order to help promote optimal methylation and regulate homocysteine levels.


Gene mutations may vary, although two main MTHFR gene mutations are C677T and A1298C. A person can be heterozygous, meaning that they inherited the gene from one parent or homozygous, meaning they have inherited both broken genes. Homozygous mutations generally result in more methylation issues and health complications. 

If you have the MTHFR gene mutation and/or a methylation issue, you might experience these health issues:

Cardiovascular Disease: 

High homocysteine levels, which are a risk factor for cardiovascular diseases, are also associated with MTHFR, and are the result of poor methylation. According to research, homocysteine levels increase with age as well as lifestyle choices, such as smoking, being sedentary and eating a diet high in processed foods. Stress can also increase homocysteine levels. 

Those with methylation issues who have cardiovascular health issues may also want to supplement with omega-3 fatty acids, vitamins A, C and D as well as magnesium and CoQ10. These nutrients are instrumental in reducing inflammation and helping to increase circulation as well as fighting free radicals and oxidative stress. 

Chronic Fatigue:

Do you notice being tired all the time, experiencing brain fog, light-headedness and dizziness and feeling disoriented? You may have a folate deficiency, which can cause exhaustion and a variety of related symptoms. 

A folate deficiency can cause fatigue since the body is lacking in this nutrient, which also promotes more energy. Those with MTHFR may wake up feeling exhausted, experience frequent brain fog, forgetfulness, irritability and a feeling of never being completely alert and awake. Exercise intolerance is also common.


Do you experience migraines and light sensitivity? This might be due to an MTHFR genetic mutation and low vitamin B levels. Particularly linked with MTHFR mutations are migraines with aura, according to research. 

Skin and Hair:

B vitamin deficiencies may also be evident in your skin and hair. Those with an MTHFR gene mutation may notice frequent skin rashes, psoriasis, eczema, dry and flaky skin, cracked heels, itchiness, acne and progressive aging. Hair might break or fall out easily due to the inability to metabolize certain vitamins and nutrients essential for healthy skin and hair. Inflammation as a result of high homocysteine levels also play a role in negatively affecting your skin and hair. 


Chronic Gut Issues:

According to studies, a common denominator for those with MTHFR genetic mutation is chronic gut issues, which may range from leaky gut syndrome to IBS, SIBO, chronic heartburn, constipation and diarrhea, stomach upset, gut inflammation, Crohn's disease and more.  This is because improper methylation can affect nutrient intake, hormonal levels (which impact gut health and the microbiome), elevated inflammation and gut transit abnormalities. 

Addressing leaky gut is essential for those with chronic gut issues. This involves eliminating processed foods, pesticides, sugar, preservatives, GMOs, and processed grains (which are enriched with synthetic folic acid and may increase toxicity), and replacing them with whole foods which are organic and Non Gmo. 


Certain herbs and nutrients can help rebuild the gut lining and promote an optimal environment for a healthy microbiome. These include licorice (DGL), glutamine and arabinogalactan as well as aloe. 

Taking a quality probiotic can help re-flourish the microbiome and increase gut transit time to further the detoxification process and assist with digestion. Healthy fats, such as avocado, can also help calm gut inflammation and help support the body’s healing process. 

Reproductive Issues:

An MTHFR gene variant in women may increase the risk of birth defects and miscarriages. This might be the result of high homocysteine levels, which create inflammation and poor nutrition flow to the fetus, resulting in either spontaneous abortion or birth defects such as anencephaly and spina bifida. Preeclampsia during pregnancy may also have a link with MTHFR gene variants and may  impact fertility. 

Men with an MTHFR gene variant may experience issues with fertility, according to researchers. Proper methylation and the folate pathway play an important role in the production of healthy sperm. In multiple studies, men with MTHFR had significantly more fertility issues than men without this gene variant.  

Autoimmune Disease:

With Leaky Gut Syndrome being a common occurrence for those with the MTHFR gene variant, it’s no surprise that this genetic mutation is associated with increased risk of having an autoimmune disease. Without proper metabolism of homocysteine, levels elevate and can cause systemic inflammation. Inflammation triggers an autoimmune response. Research shows that poor methylation means that toxins have difficulty being properly removed from the body. This puts additional load on your detox pathways and glutathione production, which is your body’s master antioxidant. Low levels of glutathione increase the risk of gut issues and autoimmune diseases, multiple chemical sensitivity syndrome and food sensitivities. 

Mental Health Issues:

Since methylation is impaired by the MTHFR mutation, it can influence hormones and neurotransmitters that are vital for mental health. Studies show that people with the MTHFR gene variant are more likely to have mood disorders such as depression, anxiety, schizophrenia and bipolar disorder. 

High levels of homocysteine as a result of poor methylation decreases production of SAMe, which then impacts important hormones and neurotransmitters that balance mood and support mental health. These include dopamine and serotonin. The inability to remove toxins that can influence mental health, such as heavy metals, pesticides and other chemicals also may affect the brain and contribute to mood disorders. 

Mental health conditions such as Pyroluria are also connected with MTHFR. Pyroluria is actually a nutrient deficiency caused by pyrolles in the bloodstream binding to essential vitamins and nutrients (specifically vitamin B6, zinc and essential fatty acids). This makes it difficult for the body to utilize these nutrients, which affects the brain as well as the digestive system. Pyroluria is often misdiagnosed as schizophrenia, manic depression and bipolar disorder. 

If you have the MTHFR gene variant, don’t simply assume you’re doomed to be plagued with a variety of diseases and health issues. “Genes load the gun, your environment pulls the trigger.” You have the ability to help your body work to its best ability. By providing it with the key nutrients it needs to methylate properly and working to reduce your toxic load, you have the tools to live a healthier, happier, symptom and disease-free life.