A few months ago, I had the opportunity to try out a relatively new ancestry and health test called Vitagene. I excitedly sent in my cheek swab sample, waited several weeks for the results to come in, and eagerly immersed myself in my 56-page profile when it arrived. It was fascinating to see some of the genes responsible for things like my genetic predisposition for exercise, obesity, reactions to salt, and possible nutritional deficiencies. As I flipped to the section on said deficiencies, something caught my eye – I had a folate deficiency which was something I certainly hadn’t expected. The gene responsible? MTHFR.
Where had I heard that (rather rude sounding) acronym? I knew I had come across it while researching for some blog post or another and decided to look into it further. It was odd to me that I should have a deficiency in such an easily accessible nutrient, considering I eat a healthy diet. What I found turned into quite the epiphany – so many things started to make sense! My poor circulation, degrading vein health, bruising, poor emotional fortitude, fatigue, and so much more started to come into light – I had a MTHFR gene mutation!
So, What is an MTHFR Gene Mutation?
The MTHFR gene mutation was discovered quite recently during the completion of the human genome project. During this research, scientists discovered that those with this type of gene mutation tended to develop certain diseases like ADHD, Alzheimer’s, autoimmune disorders, autism, and atherosclerosis more often than those without the MTHFR mutation.
It is estimated that 30-50% of the population carry a mutation of the MTHFR gene with 14-20% of those individuals having a more severe mutation that drastically impacts their health.
MTHFR itself produces an enzyme called methylenetetrahydrofolate reductase which is responsible for adding a methyl group to folic acid (aka Vitamin B9) to make it usable by the body. This enzyme is also important for converting homocysteine levels into methionine – important amino acids needed for proper metabolism, muscle growth, and glutathione production. The MTHFR gene is also responsible for the body’s ability to eliminate toxins from the body through methylation. Methylation isn’t just for detox, it’s also the process required for the creation of every cell in your body including neurotransmitters like serotonin, epinephrine, norepinephrine, and dopamine as well as immune cells and hormones like estrogen. Furthermore, the liver is a major processing organ that uses countless enzyme pathways, including methylation, in order to convert nutrients into usable forms. So, as you can see, a significant mutation of the MTHFR gene can cause a lot of havoc and a myriad of symptoms.
The picture below shows quite simply how folic acid and folate differ in terms of absorption.
The Types of MTHFR Mutations
There are two main MTHFR mutations that seem to be responsible for the more severe implications on one’s health; MTHFR C677T and MTHFR A1298C. These “polymorphisms” denote the placement of the mutation on the gene and can be inherited by one or both parents. Depending on the mutation, it can inhibit the body’s ability to convert nutrients into usable vitamins, minerals, and proteins. It can also lead to poor cholesterol levels, brain function, digestion, and endocrine health as well as heart disease and high risk pregnancies. Other symptoms include lingering fatigue, brain fog, anxiety, and sleep issues to name but a few.
The different types of mutations for MTHFR:
• Homozygous – the same gene passed on from both parents, either the 677 mutation or the 1298 mutation. (this is the mutation my sister has)
• Heterozygous – one parent passed down the 677 or 1298 mutation while the other parent passes down a normal gene.
• Compound Heterozygous – one parent passes down the 677 mutation while the other passes down the 1298 mutation. (this is the mutation I have)
The two most problematic variations are homozygous and compound heterozygous MTHFR mutations.
The common symptoms for each type of MTHFR mutation include:
AA1298 / CC677 – Normal for the two common variants, or mutations, 677 and 1298
AA1298 / C677T – Single 677 mutation – More susceptible to environmental damage, depression, central nervous system issues, etc. (referred to as Heterozygous)
A1298C / CC677 – Single 1298 mutation – More susceptible to environmental damage, depression, central nervous system issues, etc. (referred to as Heterozygous)
1298CC / CC677 – Double 1298 mutation – Much worse symptoms for the above problems (referred to as Homozygous) – This is the mutation my sister has.
AA1298 / 677TT – Double 677 mutation – Similar to 1298CC plus heart disease, blood clots, etc (referred to as Homozygous)
C677T / A1298C – Single 1298 + Single 677 – Susceptible to all of the above and worse for strokes, heart disease, blood clots, etc. (referred to as Compound Heterozygous) – This is the mutation I have.
If you get tested through a service such as 23andMe, your MTHFR mutation might look like this on their gene report:
MTHFR AA1298 (rs1801131) or TT is normal (no gene mutation)
MTHFR A1298C (rs1801131) or GT is heterozygous (single gene mutation)
MTHFR 1298CC (rs1801131) or GG is homozygous (a double gene mutation) – this is the mutation my sister has
MTHFR CC677 (rs1801133) or GG is normal (no gene mutation)
MTHFR C677T (rs1801133) or AG is heterozygous (single gene mutation)
MTHFR 677TT (rs1801133) or AA is homozygous (a double gene mutation)
MTHFR A1298C (rs1801131) or GT + MTHFR C677T (rs1801133) or AG is referred to as “compound heterozygous” (a single gene mutation of each type) – this is the mutation I have
On extremely rare occasions, some individuals can even have 3 mutations (a double mutation in one gene and a single mutation on the other) or conceivably 4 mutations:
MTHFR 1298CC (rs1801131) or GG + MTHFR C677T (rs1801133) or AG – (a triple mutation)
MTHFR A1298C (rs1801131) or GT + MTHFR 677TT (rs1801133) or AA – (a triple mutation)
MTHFR 1298CC (rs1801131) or GG + MTHFR 677TT (rs1801133) or AA – (a quadruple mutation)
What does a MTHFR gene mutation do to you?
1. It causes the MTHFR gene to produce a defective enzyme. Depending on your specific mutation, this enzyme will function less optimally – performing anywhere from 35-70% less than its capacity. This means that your body is 35-70% less able to break down toxins, remove heavy metals, and puts you at a higher risk for heart disease, cancers, miscarriages, and other issues. If is common for those with a MTHFR mutation to have high amounts of heavy metals in their system which varies from person to person.
2. The defective enzyme (especially C677T) does not break down folate vitamins properly which can cause elevated homocysteine levels. This can increase your risk for coronary heart disease, blood pressure issues, and even dementia.
3. Homocysteine can become difficult for the body to convert into glutathione – the chief antioxidant and detoxifier in the body. This makes you more susceptible to chronic stress and toxic overload.
4. Homocysteine can become more difficult for the body to convert into methionine – an essential amino acid that helps protect the body from arteriosclerosis, fatty liver disease, anemia, free radical damage, and inflammation. Low methionine levels also cause the body to produce less SAM-e – a chemical closely linked with mental health.
5. You can actually find yourself with HIGH levels of folic acid or B12 since your body has problems converting inactive forms of these vitamins into bioavailable forms. This causes these nutrients to build up in your serum which also inhibits the active forms. I personally have very high B12 levels and very low folate levels.
6. It is common to have high copper levels and low zinc levels. Since the ratio of these nutrients is crucial for optimum health since high copper is related to hyperactivity, depression, circulating negative thoughts, headaches, acne, frequent illness, sensitive skin, bruising, hypothyroid, and adrenal stress.
More on MTHFR C677T
This mutation, whether homozygous or heterozygous, causes the body to have trouble converting folic acid into the active form of folate. The implications here are twofold since you cannot tolerate folic acid – the synthetic form of folate which is often found in many processed foods such as fortified food items and baked goods. Furthermore, this mutation may cause elevated homocysteine levels which contribute to oxidative stress and an increased risk of heart disease.
As for MTHFR gene functionality as a whole (including methylation), those with a homozygous mutation for C677T have an estimated 70% loss of function while a heterozygous mutation is a 40% loss of function.
Other recommendations for those with a C677T MTHFR mutation
1. Avoid antacids as they inhibit the absorption of B12 and other nutrients
2. Avoid ingesting anything with folic acid in it including supplements and processed foods
3. Avoid taking drugs which increase homocysteine levels such as Nitrous Oxide under the guidance of your physician
4. Avoid taking folate blocking drugs such as birth control or Methotrexate under the guidance of your physician
5. Eat dark leafy greens and other folate rich foods daily
6. Eliminate dairy from your diet
7. Eliminate gluten from your diet
8. Get your homocysteine levels measured
9. If you are pregnant, seek an OB/GYN, midwife, or doula who is knowledgeable about MTHFR
10. Limit protein intake to 0.7 grams per pound of body weight per day
11. Limit your intake of processed foods
12. Reduce environmental toxins (stop using toxic health and beauty products, filter your water, etc.)
13. Remove mercury amalgams and root canals with a trained biological dentist
14. Stimulate your lymphatic system daily to help the body detox (dry skin brushing, sauna, mini rebounder, detox baths, enemas, etc.) – You can read more about this here.
The Best Supplements for C677T MTHFR Mutation
• Betaine in the form of TMG – helps to reduce elevated homocysteine levels
• Comprehensive multivitamin/multimineral (for women, for men)
• Curcumin – antioxidant and anti-inflammatory
• EPA/DHA – brain and cardiovascular health
• Glutathione – liver support and intracellular antioxidant
• Methylcobalamin or hydroxycobalamin (Hydroxy B12) – bioavailable B12
• Methylfolate – bioavailable folate
• Mixed tocopherals (vitamin E)
• NAC – antioxidant and glutethione precursor
• Nattokinase – supports cardiovascular and circulatory health
• Phosphatidylcholine – supports cellular membranes and cognitive function
• Probiotics – supports digestive health
• Pyridoxal-5-phosphate – Vitamin B6
• Riboflavin – Vitamin B2
• Silymarin (Milk Thistle) – supports liver health and detox
• Vitamin C
• Vitamin D3
More on MTHFR A1298C
This mutation, whether homozygous or heterozygous, affects the conversion of methylfolate into BH4 (aka tetrahydrobiopterin). BH4 plays an important role in the creation of neurotransmitters like serotonin, dopamine, epinephrine, and norepinephrine which is why this mutation is closely associated with phycological disorders. It also inhibits the production of the sleep hormone melatonin. Additionally, BH4 is important for cardiovascular health and plays a role in preventing heart disease.
As for overall methylation functionality, those who are heterozygous for A1298C are thought to have mostly normal function while those who are homozygous for A1298C have a 35% loss of functionality.
Those with a compound heterozygous mutation for C677T and A1298C have a 50% loss of functionality.
As for other recommendations for the A1298C mutation, follow the list above and begin changing your lifestyle into a balanced and healthy one. Also make sure to take a bioavailable form of folate to help reverse symptoms. The supplements mentioned above are also great to consider.
Unfortunately, there isn’t a ton of info on MTHFR A1298C and how best to treat it just yet. However, I will be updating this post as more information comes to light so be sure to check back periodically.
MTHFR and How to Treat it Naturally
So now that all the complicated stuff is over with, how does one actually make life a bit easier having a MTHFR mutation? You can’t simply change your genes, but you CAN help manage and prevent symptoms and live a normal life.
1. AVOID FOLIC ACID and take FOLATE instead
The fact of the matter is, you MUST at all cost, avoid folic acid – the synthetic form of folate no matter what type of MTHFR mutation you have.
Ingesting excessive amounts of folic acid found in your daily vitamins and other supplements, along with unknowingly ingesting it in a staggering number of processed foods, causes the receptors for folate to be taken up by folic acid. When you have an MTHFR mutation, your body cannot convert or use folic acid, ONLY naturally occurring folate.
Having these receptor sites constantly taken up by folic acid is what inevitably leads to a folate deficiency. You also have to keep in mind that your methylation enzymes are impaired to begin with which makes it even more important to avoid folic acid.
I highly recommend checking your daily vitamins and other supplements to see if “folic acid” is listed as an ingredient. If it is, stop taking it immediately and look for a brand that contains a methylated, more bioavailable form of folate (aka I-methylfolate which may be labeled as 5 L-MTHF or 6(S)-L-MTHF).
Those with a folate deficiency are often low in vitamins B6 and B12 as well so you may want to supplement with those.
You should also check any processed foods purchased at the store including fortified foods and milks (including plant based varieties), breads, and other baked goods. Make it a habit to check the ingredients so you avoid ingesting any added folic acid.
This is the folate supplement I recommend.
2. Eat FOLATE Rich Foods Daily
The best way to reverse your folate deficiency is to eat a diet high in folate. Rebalancing these levels will greatly improve symptoms caused by the MTHFR gene mutation. Since this mutation causes reduced methylation functionality, it may take some time before your levels are topped up again.
Foods that are naturally high in folate include:
• Beans and other legumes
• Brussel sprouts
• Dark leafy greens like collard greens, mustard greens, romaine lettuce, spinach etc.
• Flax seeds
• Green onions
• Red bell peppers
• Sunflower seeds
3. Help the Body Detox
Since an MTHFR gene mutation inhibits proper detoxification, it’s important to assist the body in releasing toxins.
Some of the best ways to accomplish this include:
• Drinking plenty of water
• Dry brushing
• Eating a diet high in nutrient dense whole foods
• Exercising regularly
• Taking detox baths
• Using a mini rebounder
• Using a sauna
• Using only natural health and beauty products
4. Lead a Healthy Lifestyle
Everything from stress, anxiety, quality sleep, digestion, exercise, and your environment affect the expression of our genes. If you focus on eating a healthy diet, reducing stress, healing and supporting your digestive tract, moving around daily, and getting high quality sleep, your MTHFR gene mutation will not be expressed as strongly.
5. Get Tested
If you think you may have an MTHFR gene mutation, you can get tested quite easily by using 23andMe. I recommend them because you can get your raw data file which is what you need in order to see if you have an MTHFR mutation. Once you have it, you can simple upload the data to Genetic Genie for a more thorough look into your methylation genetic profile.
Once you know which genes are mutated, if any, you can then determine what steps you can take to ease and control the expression of the gene.
If you have a mutation, chances are your children may have them as well. Get them tested especially if you suspect tongue ties, cleft lip, etc.
Having a MTHFR gene mutation isn’t the end of the world and it certainly isn’t your destiny. Getting educated and taking action is the best way for you to lead a normal healthy life with MTHFR.
Some Good Sources for Learning More About MTHFR
Do you or anyone you know have an MTHFR gene mutation? What have been your best resources for treating it naturally? Please let me know in the comments below!