Unraveling the MTHFR Gene: A Comprehensive Guide to Help Optimize your Health

Demystifying MTHFR

Often my patients are concerned when they hear they have one of the MTHFR genes and of course immediately google it to find all the associated conditions!   In reality, up to 40% or more of people carry one or more of the MTHFR genes that can be associated with many conditions.  The truth is though that finding out you have this gene AND taking the correct steps can be potentially life changing.

The MTHFR gene is responsible for converting folic acid to the active methylated form in the cell which is then used to catalyze biochemical cellular reactions.    Methylated folate is now available both through prescriptions and also through most high quality supplements.    This methylated folate allows your cells to bypass this gene and essentially can alleviate many downstream effects.   This may have far reaching implications, especially in those who are not getting rich sources of methylated folate from their food.

What is methylation?

To fully understand MTHFR it is important to understand what methylation is all about.    Methyl groups are added to certain molecules the cellular machinery uses. When a methyl group is added it is used to activate chemical reactions that are happening in the cells all the time.    Think of methylation as a switch, and you want the “right” amount.   Too much methylation may also lead to issues so focusing on the right amount is important.   When you have a gene that is not 100% effective with methylation, some of these reactions might be slower than usual.   Slow methylation may lead to poor breakdown of homocysteine, neurotransmitters and poor detoxification reactions too.   

What are the MTHFR genetic variants?

MTHFR (Methylene-tetra-hydro-folate-reductase) is an enzyme  coded for by a gene on Chromosome 1 called the MTHFR gene.    This gene may be normal or contain a  polymorphism that affects approximately 25-65%  percent of the population.   

The MTHFR gene has two main markers that are currently tested. One is called the MTHFR 677 and the other is called MTHFR 1298c. These genetic markers are given to us by our parents. We receive one copy of 677 from our Mom and one copy from our Dad. The same is true for 1298c. Therefore, it is possible to have many different combinations in each family depending on what copies were received from each parent. Having a gene that has a substitution of a base pair from both parents is termed homozygous. Having just one abnormal variant from one parent is called heterozygous.  Finally, having the “wild” type is the most desirable as this genetic type is the most effective for our cellular chemistry. 

MTHFR C677

MTHFR 677 is the most common variant.    Those who have two copies of this variant may have up to a 70% reduction in normal MTHFR production.

MTHFR 1298c

Those with one of the MTHFR 1298 c variants may have up to 40% reduction in production of this enzyme.  If you are homozygous, or have both alleles effected, then the reduction of enzyme production may be reduced further.  This reduced production causes the vitamin folic acid (B9) to have difficulty in converting to the active form, 5-MTHF.   This is why supplementing with the active 5-MTHF form is desirable in most cases.   It is important to verify with a knowledgeable functional medicine physician ( Find Certified Functional Physicians Here) in regards to dosing and other nutrients that may be needed as well. 

Health Implications of MTHFR

Many health conditions have been associated with this genetic type as the use of methylated folate happens in almost every cell type to the body!   The more metabolically active a cell type is the more reactions that need the enzyme.   Therefore things like brain and liver contain many of these enzymes and the reactions may move “more slowly” without the needed substances.    This is why personalized medicine is so important as we are all different and require different amounts of things to be optimal. 

There are many associated conditions with the MTHFR gene- but remember, having the gene does NOT mean you will have or get these conditions.   In general, the more complete your nutrient status is the less likely this gene will have implications on your health.   A healthy diet is super important to make sure you get optimal nutrients and less toxins. 

Due to the far reaching implications of this gene, associations with many conditions has been found.    Remember, having the gene does not mean the condition will occur, especially if you take preventive steps with your health.

Conditions associated:

Mental Health:

•       Depression, anxiety, addictions, ADHD, autism, insomnia, schizophrenia, bipolar, dementia.

•       Migraines

Cardiovascular disease:

• Hypertension myocardial infarction, stroke.

Reproduction:

• Infertility/frequent miscarriage

Inflammation:

• Fibromyalgia
• Blood Clotting issues/pulmonary embolism
• High homocysteine
• Chronic Fatigue
• Chemical Sensitivity
• Autoimmunity

Testing for MTHFR

Testing for MTHFR is a simple test you may order through one of the reputable genetic testing companies.   I offer testing through my site at www.drjenniferkessmann.com.  Testing is usually done through saliva or blood.   Especially when testing genetics I encourage my patients to keep this information private and only share with trusted parties.  

Lifestyle Modifications for MTHFR optimization

Nutrients

Luckily, especially with MTHFR, you are not at the mercy of your genetics.  Addressing lifestyle and nutrient status early on can make a difference in how you feel and also in some  of the consequences of this gene.    Discuss your supplementation and lifestyle with a knowledgable physician to make certain you are taking high quality and independently tested brands.   When it comes to supplements, they are not FDA approved nor tested so you are relying on the company to make sure the supplement is of the highest quality and does not contain impurities and that the dose is validated.

It is important to note that folic acid is NOT the same as methylated folate and that you make sure to include sources for methylated folate in your diet and supplements.   When you have MTHFR the body can not use most folic acid in supplemented foods.    Dark leafy greens are one of the best sources for natural methylated folate, but the dose will be unreliable. 

Detoxification

With MTHFR, detoxification processes may be effected so it will be all the more important to follow precautions with your food, water and air.    Clean air, clean food and clean water are important for health, especially when you have combinations of genetic typings that make toxin removal slower.   Detox and Your Health So much of detoxification happens in the liver through many genetically coded enzymes.   MTHFR is just one of the enzymes that may make your detoxification process a bit slower.      

The following may be important to help prevent exposure to toxins in our environment.

Exposure to toxins:  

• Eat organic grass fed meats and dairy when possible.
• Avoid fish containing high heavy metals like shark, tilefish, dark tuna, swordfish and tilapia.
• Drink high quality filtered water from glass if possible.
• Do not eat food stored or heated in plastic.
• Remove metal amalgams with a dentist trained in the SMART protocol.
• Invest in a high quality air purifier like Austin Air or Air Doctor..

Reference links:

• MTHFR and CV diseases: https://www.mdpi.com/1422-0067/25/1/193
• MTHFR and HTN https://doi.org/10.1111%2Fjch.13811 
• MTHFR and cancer  https://doi.org/10.3390/genes12040587
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8073588/pdf/genes-12-00587.pdf
• MTHFR and Migraines:  https://doi.org/10.1111/j.1526-4610.2012.02106.x
• MTHFR and thyroid: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697641/