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The MTHFR Gene Mutation – What Is It And How Can Diet And Lifestyle Changes Help?

Kimberly England's picture

When you have an illness, you begin to learn a whole new language when it comes to taking responsibility for your health. Your physical triggers like (cardiovascular disease, high blood pressure, leaky gut, IBS, TSH, fibromyalgia, Type II Diabetes, hypothyroidism, dementia, autism, Parkinson’s, bipolar, autism, schizophrenia, colon, rectal and breast cancers), take center stage in your search for wellness. What feels as if it should be so simple to understand, then becomes overwhelming and confusing. But, when a Gene Mutation (polymorphism) is added to the mix, you have something more challenging altogether to deal with.


Have you tested positive for MTHFR?

Over 50% of the population now has some form of MTHFR (methylenetetrahydrofolate reductase) gene mutation. The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

MTHFR is needed for DNA reproduction and essential for folate metabolism, where the subtrate 5, 10 methylenetetrahydrofolate is converted into 5 methylenetetrahydrofolate. If an MTHFR mutation is present, and the mutation is expressed, a person may become deficient in 5 methylenetetrahydrofolate (5-MTHF).

MTHFR deficiency may cause increased levels of homocysteine in the bloodstream, while methionine levels decline. Blood pressure is likely to be influenced as well as cardiovascular and many other health issues.

One of the essential roles of MTHFR and 5-MTHF is to aid in the re-conversion of homocysteine into L-methionine. Homocysteine is an oxidized amino acid, one that is derived from L-methionine. In the methylation cycle, homocysteine must convert back into L-methionine. If it does not re-convert effectively, homocysteine levels may remain elevated, predisposing one towards developing cardiovascular disease and cancer.

MTHFR related diseases
Mutations in MTHFR, and deficiencies in 5-MTHF may predispose a fetus towards developing neural tube birth defects in utero, such as spina bifida. MTHFR mutations may also be a significant factor in cardiovascular disease, high blood pressure, leaky gut, IBS, TSH, fibromyalgia, Type II Diabetes, hypothyroidism, dementia, autism, Parkinson’s, bipolar, autism, schizophrenia, colon, rectal and breast cancers, etc. It is unlimited discovery at this point.

In the autism research field, Dr. Amy Yasko has not seen an autistic child who did not have one or more MTHFR gene mutations.

There are 2 types of MTHFR Genetic SNP’s. Depending on which SNP you have will determine which disease may rear its ugly head:

The C677T and A1298T according to NCBI, U.S. National Library of Medicine, National Institutes of Health. The type of MTHFR variation you have may lead to a greater susceptibility to certain diseases. For example, the C677T mutations may predispose one towards cardiovascular disease, peripheral neuropathy, and birth defects. Whereas variations of the A1298T may lead more towards the development of fibromyalgia, schizophrenia, migraines, nerve pain, Parkinson’s, chronic fatigue and dementia. The diseases are limitless as studies continue forward.

In a study by JAMA Neurology, they chose a betaine treatment (beets) on outcome in patients with severe methylenetetrahydrofolate reductase (MTHFR) deficiency, but the effect of Betaine Treatment on Survival was startling. All treatment regimens consisted of betaine at a dosage of 100 mg/kg/d or more. Betaine treatment was clearly associated with increased survival: whereas 9 of 10 untreated patients died, only 2 of 26 died after initiation of treatment. Of note, 1 of 2 patients who died despite introduction of betaine exhibited neurological deterioration and respiratory distress at the time treatment was initiated. None of the 5 early-treated patients died as compared with 11 of the 31 patients (33%) in the no-early-treatment group.

Other studies reflect (Betaine, HCL and Pepsin) for the purposes of balancing out the optimal stomach acidity, protein digestion, and enzyme activity are of significance. Every individual body is different and will react differently. For simplistic purpose, betaine is commonly found in beets. Adding juiced beets to your diet may be extremely beneficial along with B12 and Folate B9.

Having MTHFR is not as simple as just living. There are major changes that must be made to your diet and lifestyle. Seeking a specialist in this field is highly encouraged because no one shoe size fits all. But we can start with a few important factors that may help. Let’s look at what to include/remove in your diet and environmental concerns.

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The Good Foods for MTHFR
It's important to incorporate Beets, Vitamin B12 and Folate (B9) to an MTHFR diet. Most of us think we get enough folate in our daily intake, but that’s not accurate. Most processed foods use folate conversion as folic acid and present it as folate when in fact, it’s not. The debate of folate versus folic acid is still ongoing, but is relevant to the health of a person with MTHFR Gene Mutation. That’s when reading and understanding ingredients becomes relevant. Even then, it’s still not enough. It’s important to be extremely proactive. If you add Beets, B12 and activated Folate (B9) to your diet, it should be with the help of a professional and a carefully monitored diet.

All foods (including supplements) that contain “folic acid” or have added “folate” are man-made substitutes for the real folate that is found in leafy greens. Those with MTHFR must avoid these added folates and folic acids which prevent their natural folate metabolism from working properly.

Most B complex supplements have two problems that dramatically affect those with MTHFR gene mutations these include:

1. Folic acid is a synthetic “man-made” form of folate that interferes with the absorption of real folate in those with MTHFR. This makes life much harder for those with the gene defect increasing the deficiency of the already reduced ability to absorb and use folate.

2. Vitamin B12 as cyanocobalamin version of B12 is made from cyanide which over time may have toxic effects, this form of B12 is not ideal and for those with MTHFR gene mutations, it can often be harder for their body to use vs other forms of B12. This synthetic “man-made” form of vitamin B12 has low biological activity. This means that it must be converted in the liver to become a more active form so it can be used. Those with existing gene mutations may have more trouble breaking down the cyanocobalamin version of B12 which is not ideal.

The Bad Foods for MTHFR
The MTHFR Gene Health, published The Bad Foods List for MTHFR, which is quite specific. Eating foods on this list can reflect more health problems and you may have a hard enough time trying to keep good levels of energy, enzymes and metabolic processes going so these foods just slow everything down, they are so powerful in fact that they can bring your energy to a halt.

An easy test you can do for your body to see if it will reject or accept food is as follows

If you stay away from the Bad Foods List and incorporate the Beets, B12 and B9, you may see a dramatic improvement. The other way to test if your body “rejects or accepts a food” is to eat 1 food for 3 days and see how you feel. If you feel bad, then ditch it! If you feel good, put it on your list of Good Foods, but continue consultation with your doctor.

Environmental factors for MTHFR
Stress, in all its forms, inhibits “methylation”. It is especially important to provide the nutrients necessary for these processes during stressful times giving the liver time to process and detoxify. Some naturopathic doctors suspect that lingering fatigue, fogginess, anxiety, sleep issues and inability to deal with alcohol and other toxins effectively can be a result of an underlying gene mutation like the MTHFR. Stress is a compounding factor though.

Methylation increases sulphation for the excretion of heavy metals and the elimination of allergies (environmental and immune). Furthermore, methylation improves the production of glutathione, which is the master antioxidant that excretes environmental toxins and pathogens out of the body. Having normal levels of glutathione enables the body to excrete the environmental toxins efficiently. Without methylation, the body cannot excrete environmental toxins efficiently, so it’s important for a person to find ways of detoxing. Methylation also repairs DNA, controls homocysteine levels, keeps inflammation in check and recycles key antioxidants.

With all the pollutants in our environment today, one may not even know if their detox pathway wasn’t working until they started to feel bad or took seriously ill. Simply put, most doctors don’t even order MTHFR and heavy metal tests unless asked. It is entirely up to us to take those requests seriously.

Be sure to get a heavy metal test and utilize ways for detoxing if your methylation isn’t working properly. Here’s a simple list to begin.
1. De-stress- walking, exercise and meditation/spiritual healing;
2. Get outdoors into nature;
3. Drink water and fresh juicing;
4. Eat raw, healthy unprocessed organic foods;
5. EDTA Chelation for extreme cases of heavy metal poisoning;
6. Sweat out in a Sauna;
7. Exfoliate/dry brush your skin;
8. Take baths using Bath Salts—have your doctor check your kidney function first;
9. Coffee Enema’s;
10. Eliminate or reduce sugar intake.

If you’re not sure if you have MTHFR Gene Mutation, but you have symptoms, you can order the test through your doctor. Most insurance will cover some of the expense. Other options will require you to create a user login: MTHFR Support, dnalife Spectracell Labs, Quest Diagnostics and Lab Corp.

Finding and receiving love, peace of mind and spirit through a trying time, is always the best medicine for healing.

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