MTHFR Gene Mutation Defined for Your Health. What is MTHFR? - MTHFR Gene Support

MTHFR Gene Mutation Defined for Your Health. What is MTHFR?

What if you could improve your health by knowing if you have an MTHFR gene mutation?

MTHFR is a gene encoding for Methylene-TetraHydroFolate Reductase (MTHFR). MTHFR is an enzyme found within the human body. Playing a vital role in how the body uses folate (vitamin B9). It converts the folate you eat, into folate your body can use (Folate → 5-methyltetrahydrofolate). The MTHFR gene has the information needed to make this important enzyme.

What Is An MTHFR Gene Mutation?

MTHFR gene mutations may contribute to serious health issues. Knowing you have one can help you start improving your health.

The MTHFR enzyme is a protein made up of amino acids. Each amino acid has a specific 3-letter code within your DNA. A mutation or single nucleotide polymorphism (SNP) changes one letter in the 3-letter code for a specific amino acid (or it could be a deletion).

An MTHFR gene mutation can replace one amino acid for another within the MTHFR enzyme, leading to a change in function. The MTHFR gene mutation alters the chain of amino acids that make up the MTHFR enzyme changing its overall shape. It’s important to understand that an enzyme’s shape gives rise to its function. So for example, the MTHFR C677T means that at place 677 on chromosome 1, the Cytosine has been changed to a Thymine. This change causes the amino acid sequence to change that makes the MTHFR enzyme.The result is a dysfunctional enzyme (it’s slower) and less 5-methylfolate production.

The overall shape of the MTHFR enzyme varies based on what MTHFR gene mutations are present. Each unique mutation has a different impact on how the MTHFR enzyme performs within the body. There are currently 34 different known MTHFR gene mutations. The two most researched mutations are C667T and A1298C, which are the mutations we focus on most.

Is There One Type Of MTHFR Gene Mutation?

Depending on the mutation you have the consequences are slightly different. Each mutation follows a similar trend towards less methylation within the body or less active folate production (5-MTHF). If a mutation is present, the enzyme can have a 20% to 70% loss of function.

Since everyone has two copies of each gene (one from each parent), loss of function depends on whether there are one or two copies of the MTHFR gene mutation present.

One copy of a gene = Heterozygous (C677T= ~40% loss, A1298C=~20% loss) (This means you have one copy from mom OR dad)

Two copies of a gene = Homozygous (C677T=~70% loss, A1298C=~40% loss) (This means you have one copy from both your mom AND dad)

One copy of both C667T and A129C = compound heterozygous = ~50% loss

(This means mom and dad each gave you one copy of C667T or A1298C)

In general, less methylation occurs in people who have two copies of an MTHFR gene mutation.

MTHFR Mutations = Less Methylation

Methylation is responsible for turning multiple processes within cells “on or off”.

Proper methylation (adding/removing methyl groups (CH3) from molecules) within the body ensures cells are doing their jobs.

Think of methylation as a master switch. Any biochemical product that ends in MT is a methyltransferase. Methyls act as a switch for methyltransferases, they make them stop and go. Methyltransferases have important biochemical roles in our bodies. For example:

  • The breaking down of toxic oestrogens through hormone production via COMT
  • The health of cellular membranes and energy through choline production via PEMT
  • For a more indepth understanding of the importance of methyltransferases click here (your methyltransferase article))

When methylation is not working or down regulated, the body is not able to produce correct responses to the environment, damaging the body. Certain process within cells will be turned on or off for too long, leading to an impaired ability to:

  • Get rid of toxins (detoxification)
  • Repair and rebuild DNA/RNA
  • Produce and process hormones
  • Build immune cells
  • Repair cell membranes
  • Turn the stress response on and off
  • Metabolize fat
  • Produce energy
  • Recycle and build neurotransmitters

When these vital cellular processes are not working correctly, adverse symptoms can arise such as: cardiovascular disease, impaired immunity, chronic inflammation, diabetes, anxiety, depression, chronic fatigue, cancer, fibromyalgia infertility and miscarriages. Problems with methylation will amplify the symptoms of existing autoimmune and psychiatric conditions. For a more in depth analysis about the symptoms of MTHFR mutations click here. (yes mthfr symptoms / conditions article

It is important to know if you have a mutation in the MTHFR gene.  Approximately 50-65% of the population has an MTHFR gene mutation.

However, if you have a mutation, this DOES NOT mean you have a problem with your health. Your environment plays a big role in determining the outcomes of mutations, which we will go over later in this article.

Testing For MTHFR Gene Mutations

Fortunately, there are  simple ways to find out if you test positive for a mutation in your MTHFR gene.

  • Through our MTHFR gene test. By ordering our simple blood spot test or buccal swab test you can find out if you are positive for an MTHFR mutation. The test is simple and you can do it in the privacy of your own home. Our test is available nationally and internationally.

Click here to order your testing kit and to learn more.

  • MTHFR buccal swab. This is a simple swab of the inside of the mouth. You swab your mouth and send it to us for analyses. This is an ideal option for children.

Click here to order your testing kit and to learn more.

    • Doctor/health practitioner. This method takes a bit longer than ordering our kit. You can make an appointment with your doctor or health care practitioner, who may give you a referral form to a pathology collection center. The pathologist will take a blood sample and the results are sent back to your doctor/health care practitioner for analyses. It is important to state you want to test for both of the most common MTHFR mutations (C677T and A1298C).


Managing MTHFR Gene Mutations

Knowing if you are positive for an MTHFR gene mutation is important because it may affect your biochemistry to the point that your energy, hormones, mood and detoxification systems are affected. It’s important to remember, just because you have a mutation in this gene, it may not mean you have any issues. What plays the biggest part in MTHFR mutations causing problems is your environment. What you eat, the amount of sleep you get, the stress you are under, the toxins you are exposed to, all play a role in the way your genes are expressed. Your genes are always feeding off of the environment to determine which how much a gene should be expressed and what genes to turn on/off. Working to create a stress free environment is a simple way to begin managing MTHFR gene mutations.

Over the past couple of decades science has been uncovering vast amounts of information in the field of nutritional and biochemical sciences There are some basic guidelines to managing MTHFR mutations through diet and lifestyle. These guidelines revolve around consuming foods that are easy for your body to digest, do not cause inflammation and avoiding toxins overloading the body’s detoxification systems. It is recommended that you:

  • Avoid cereal grains (because they are fortified with folic acid (not the right form of folate we want – see our folic vs 5-MTHF article
  • Avoid dairy products (they put extra stress on our immune system)
  • Avoid processed foods (they lack nutrients and folic acid is often added)
  • Lower alcohol consumption (it depletes all our B Vitamins)
  • Quit smoking (puts too many harmful chemicals into our body)
  • Reduce/modulate stress (stress responses consume the most methyl groups)
  • Reduce environmental toxins (MTHFR mutations impair the ability to detoxify, placing extra stress on the liver)
  • Increase vegetable consumption (especially dark leafy greens)
  • Maintain a healthy weight

Diet and lifestyle is individual. What is right for you, may not be right for the person next to you. But basic guidelines are here.  Our detailed diet and lifestyle guide for MTHFR gene mutations can be found here.

Key Considerations If You Have An MTHFR Mutation

I like to think of this as exciting news! It means you have a roadmap to improving your health and stopping the progression of health issues that plague many people in later life. The earlier you address your health, the easier it is to bring the body back into balance.



P.S. If you are looking for a more in depth explanation and management of MTHFR before pregnancy, be sure to check out our Flagship course “MTHFR and Preconception”. This 4 to 8 module course will guide you through the ins and outs of preparation your body will need to have a healthy and thriving pregnancy. Modules include what tests to expect, how to analyze the results and steps to take to prepare mentally, physically and emotionally for your pregnancy.