What Is The MTHFR Gene Mutation? - DrJockers.com

What Is The MTHFR Gene Mutation?

What is The MTHFR Gene Mutation?

Gene mapping has become extremely popular of late and a lot of research is being put into looking at various genes and their impact on our health.  The most well studied gene in terms of health is the methylenetetrahydrofolate reductase or MTHFR.  This article will address the question of what is the MTHFR gene mutation, how does it impact our health and what can we do if we have an alteration at this gene?

What most people believe to be “genetic” conditions are usually heavily related to lifestyle choices. This include things like type II diabetes, cardiovascular disease, cancer, and many others. Even if one of these conditions run in your family, they are still primarily influenced by your diet and lifestyle, a concept referred to as epigenetics (1).

This is because, although you may have a certain genetic sequence in your DNA, your choices determine how those genes get activated or deactivated. There are however, minor genetic mutations that can influence how someone might respond differently to the same diet and lifestyle as someone else, such as the MTHFR gene mutation.

What Is A Gene Mutation? 

Genes are encoded by little proteins in what is called your DNA. These genes indicate things like biological traits (hair/eye color, skin tone, etc.) but they can also influence how a person’s body responds to its environment.

At this point in our understanding of biology, researchers have mapped the entire human genome. What this means is that we now have record of every possible DNA sequence found in humans. What we have yet to completely understand is how these sequences are relevant to our biology (2). We are starting to uncover some helpful clues however.

Types Of MTHFR Mutations 

The MTHFR gene codes the MTHFR enzyme which is involved in the methylation process within each cell.  When there is a mutation at this gene, it alters methylation and this can lead to a number of health challenges.  There are currently two known types of MTHFR mutations, also referred to scientifically as polymorphisms.

The MTHFR mutation can be inherited from one or both parents, affecting the MTHFR C677T or MTHFR A1298C genes specifically (3). A single mutation (heterozygous) in one of these is considered a risk factor for certain diseases while a double mutation (homozygous) is considered more of a concern.

A C677T mutation is associated with elevated homocysteine levels. This may put someone at higher risk for heart disease or neurodegenerative diseases, such as Alzheimer’s (4, 5).

A A1298C mutation is associated with neurotransmitter balance which has implications for mood regulation, depression, and addiction (6). 

What’s Significant About MTHFR? 

Researchers observed that people with a mutation in their MTHFR genes typically had higher rates of diseases like ADHD, alzheimer’s, depression, atherosclerosis, autoimmunity, and many other conditions (7). Now we know that the MTHFR gene is what determines our ability to methylate properly within our cells. This gives us insight into how we can mitigate the risk of these diseases. 

Methylation is a controlled transfer of a methyl group (one carbon and three hydrogen atoms) onto proteins, amino acids, enzymes, and DNA in every cell and tissue of the body to regulate healing, cell energy, genetic expression of DNA, liver detoxification, immunity, and neurology. 

These are all fundamental aspects of a healthy body so understanding how this genetic mutation influences health is extremely important from my perspective.

How Might This Mutation Affect You? 

While this genetic mutation tells us something about how someone’s body might respond to a certain lifestyle, there is still variance within this group. Some people experience very little consequences while others can encounter serious illness as a result. Obviously, there is deeper research necessary to fully understand quite how this works.

Also, most of the evidence that exists currently linking these mutations to certain diseases are epidemiological. This means they are only associations and we have no reason to believe that a MTHFR mutation can actually cause a disease.

That being said, there are certain considerations that may help people with MTHFR mutations experience a much greater level of health and wellbeing. I will touch on this towards the end of the article.

Why Methylation Is Important 

If you find out you have this genetic mutation, the next thing you want to do is actually test if you are having methylation problems. This is the real concern that we know can contribute to health problems.

Methylation is a critical process that happens trillions of times in every cell each minute.  It is one of the most essential metabolic functions of the body and is dependent upon a variety of enzymes. Without properly functioning methylation, one will experience accelerated aging due to an excessive energetic and toxic load that the body cannot handle.

As you can see, methylation is really a fundamental process in human biology that can have a huge impact on one’s health.

MTHFR Does Not Determine Your Fate 

As I mentioned in opening this article, your genes do not determine your fate. Due to the quickly developing field of epigenetics, we now understand how our gene expression can be influenced by our environment.

Our lifestyle habits, environmental conditions, and exposure to toxins can all influence gene expression. This has powerful implications for disease prevention and offers a solution for those with genetic mutations such as that of MTHFR.

Ways To Improve MTHFR Symptoms 

While having the MTHFR gene mutation is not a guarantee that you will face any kind of symptoms, there are strategies you should consider to counteract any you may face. MTHFR symptoms may be mostly related to methylation.

Methylation is regulated by key enzymes and cofactors for activation. This process is dependent upon certain vitamins and minerals. By taking this into account and supporting healthy methylation, many of these issues can be minimized.

Get More Folate

Proper methylation depends on the presence of certain nutrients in the body. The primary methyl donor involved in methylation is called S-adeosylmethionine (SAM). SAM is produced through a process that requires B vitamins (especially folate), choline, and betaine (8).

Getting plenty of these nutrients in your diet is a great first step for supporting methylation. Some of the best choline rich foods include grass-fed beef liver, sunflower lecithin, pasture-raised eggs and grass-fed butter.  Some of the best sources of betaine include beets and spinach.  The chart below shows the best sources of natural folates.


You may also find benefit in supplementing with a methylation support formula such as Methyl Power.

Control Homocysteine 

High homocysteine levels due to MTHFR mutation may be contributing to inflammation and increased risk of heart disease. This is because methylation is responsible for helping to clear this inflammatory amino acid out of the body. If methylation is inhibited. Other strategies need to be employed to help control homocysteine.

In addition to getting adequate nutrients listed above, follow these strategies to control homocysteine:

  • Do not overconsume animal protein (high in methionine, gets converted into homocysteine)
  • Consume bone broth to balance methionine with proline and glycine
  • Balance blood sugar
  • Avoid excessive caffeine
  • Avoid alcohol
  • Avoid processed foods
  • Consume plenty of antioxidant-rich vegetables and moderate fruits
  • Consider supplementing with Betaine (can assist with homocysteine metabolism) 

Heal The Gut 

It is important to keep the gut healthy for everyone, however, digestive complaints seem to be more common among those with MTHFR mutations. Additionally, it is important to make sure the gut is absorbing the nutrients listed above so that methylation can occur effectively.

Following a healing diet, consuming bone broth, and avoiding common food sensitivities is a great start. For more in-depth steps on maximizing your gut health, check out this article here.

Stress Reduction 

Chronic stress can deplete B vitamins, contribute to neurotransmitter imbalances, and provoke MTHFR gene mutation symptoms to become more pronounced. Because those with this mutation are already at higher risk of mental disorder, this is an important preventative measure.

My top tips for controlling stress and anxiety are outlined below:

Natural Detoxification Support 

If your methylation processes are not optimized, your body will have a higher difficulty eliminating toxins. If not addressed, these toxins can build up and cause a long list of issues.

It is important to employ daily detoxification strategies like super hydrating, fasting, sweating (through sauna or exercise), using activated charcoal, and limiting your exposure to toxins in your environment.

Get Sunlight 

Regular sun exposure is a key component of healthy brain function. This can be powerful for those predisposed to neurological disorders. Sunlight optimizes Vitamin D levels, supports healthy dopamine and serotonin, improves sleep, and supports blood sugar balance.

Additionally, healthy sunlight exposure may also help reduce autoimmunity and protect from neurological conditions such as Alzheimer’s and Parkinson’s disease. This is all just by going outside… and its free!

For added benefit get your bare feet in the grass, sand, dirt, or rock to receive earthing benefits at the same time.

The two most important times to get sunlight are first thing in the morning and around noon. Receiving the full spectrum of light from the sun is a powerful stimulus of your circadian rhythm.

Tips For Healthy Sunlight Exposure:

  • Make sure to remove glasses, sunglasses, or contacts as these filter sunlight and prevent the full spectrum of light from reaching your eyes.
  • Never look directly at the sun
  • Expose as much skin as possible for maximum benefit
  • Start with short amounts (15-20 mins) and work your exposure times up to several hours if possible

Control Exposure To Blue Light

In addition to getting adequate sunlight, it is important to limit your exposure to artificial blue light. This is the type of light that is emitted from phones, TVs, laptops, and most artificial lighting fixtures.

This type of light is extremely disruptive to circadian rhythms and can have a negative effect on neurotransmitter balance.

It is especially important to avoid these types of light in the early morning and within 4 hours of your intended bedtime. You can do this by turning off your devices or investing in a pair of blue light blocking glasses and using them strategically around these times.

How To Find Out If You Are Affected 

Many people will come across this article without knowing if they actually have this mutation or not. If you want to get this information, along with a lot of other helpful genetic information, 23 & Me is a great option.

This is a simple one-time saliva test that you order to your home, perform at home, and ship back with the provided shipping information. For a one-time fee of $199 you get a complete mapping of your unique genetics and insights as to what this means for your health.

While your genetics aren’t necessarily your fate, you can at least gain insight into any increased risks you are facing for certain diseases. Armed with this knowledge, you can implement lifestyle factors to make sure you are not surprised down the road.

Sources For This Article Include: 

1. National Institute of Health: Epigenetics
2. Moraes, F., & Góes, A. (2016). A decade of human genome project conclusion: Scientific diffusion about our genome knowledge. Biochemistry and Molecular Biology Education, 44(3), 215–223. PMID: 26952518
3. Levin, B. L., & Varga, E. (2016). MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature. Journal of Genetic Counseling. PMID: 27130656
4. U.S. National Library of Medicine: MTHFR Gene
5. Wierzbicki, A. S. (2007). Homocysteine and cardiovascular disease: a review of the evidence. Diabetes & Vascular Disease Research : Official Journal of the International Society of Diabetes and Vascular Disease, 4(2), 143–50. PMID: 17654449
6. Werner, E. R., Blau, N., & Thöny, B. (2011). Tetrahydrobiopterin: biochemistry and pathophysiology. The Biochemical Journal, 438(3), 397–414. PMID: 21867484
7. Yang, B., Fan, S., Zhi, X., Xia, R., Wang, Y., Zheng, Q., & Sun, G. (2017). Geographical and ethnic distribution of MTHFR gene polymorphisms and their associations with diseases among Chinese population. Clinical Genetics. PMID: 27888505
8. Anderson, O. S., Sant, K. E., & Dolinoy, D. C. (2012). Nutrition and epigenetics: An interplay of dietary methyl donors, one-carbon metabolism and DNA methylation. Journal of Nutritional Biochemistry. PMID: 22749138

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3 Responses to What Is The MTHFR Gene Mutation?

  1. Judith August 19, 2017 at 3:15 pm #

    This is by far the best article I have seen on this complicated subject. The graphics were fabulous. Thank you again, Dr. Jockers for explaining the importance of methylation to our health and the potential impact of this particular gene mutation. I am so grateful for you and your team!

  2. Pascual August 21, 2017 at 6:36 am #

    Hello Doctor
    A fan of his articles from Spain.
    It’s amazing, how health problems are related to problems in methylation.
    I hope you will soon translate some of your books into Spanish

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