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))
- 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
- 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).
- 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
- You need to check if you have the gene mutation
If you do, the first steps you need to take are:
- assess your environmental factors
- are you getting enough sleep?
- are you too stressed?
- are you eating a good diet?
- are you avoiding folic acid?
- are you exposed to heavy metals or toxins?
- Have you had a miscarriage or has anyone in your family had one? Consider the pregnancy course to guide you through preparing for pregnancy if you have the MTHFR gene (link to course information). Or join me on one of my FREE Preconception video’s
- Review our information on how to start supplementing if you have the gene. It’s always important for you to work with your Health practitioner, however if you don’t have one or can’t afford one then this video will give you some guidance. (link to webinar - this will be recorded in a couple of weeks).
- This doesn’t take the place of a Dr or practitioner, but if you don’t have access to support, this may be a good first step.
- You can also listen to my Youtube videos on this subject and download the handouts
- See a practitioner who can give you support. If you do not have one then click here for support email@example.com
- Don’t panic! There’s a lot of false and misleading information out there. Don’t believe everything you read. Get good solid advice and I wish you a happy MTHFR journey.!!!