MTHFR Gene Mutation Treatment

If you’ve been diagnosed with an MTHFR mutation, don’t panic! You may not necessarily experience all of the symptoms associated with the mutation. In fact, symptoms vary depending on the type of mutation you have.

Making changes to your diet and lifestyle can help you optimize your body’s methylation processes and reduce the risk of symptoms. Natural treatments and supplements (such as methylfolate) can also help you to feel great and support your long-term health.

There is no specific one-size-fits-all treatment diet for MTHFR—but there are ways to support your health through diet and nutrition. The foods you eat and the supplements you take can play an important role in minimizing your risk of health issues associated with MTHFR.

Those with an MTHFR mutation are often low in natural folate, B12 and B6. These are key nutrients for the proper functioning of the methylation pathway. Impaired methylation can mean that a huge range of important molecules may not be efficiently produced. If this is the case, it’s important to mitigate its impact on your health.

Those with MTHFR should avoid foods fortified with folic acid, the synthetic form of folate. The body is unable to properly convert folic acid into its active form, which can result in a buildup of folic acid in the body.²

Folic acid is added to many fortified breads, cereals, pasta, and other grain products. Check labels carefully. Reduce intake of inflammatory foods such as sugar, gluten, refined grains, dairy, trans fats, and processed snacks.

It can be difficult to get the necessary amount of folate and other essential nutrients from food alone, so supplementation is often the most efficient way to restore a deficiency and support methylation. For those with MTHFR, L-methylfolate is the only way to bypass the MTHFR mutation and support healthy folate levels.

Clinical studies show that multivitamin supplementation with B vitamins can significantly reduce homocysteine levels among patients with hyperhomocysteinemia.³

These can be the most important B vitamins for someone with a MTHFR mutation. 

N-acetylcysteine (NAC) is a powerful amino acid that increases glutathione, the body’s most important antioxidant. Taking NAC as a supplement has been shown to significantly lower homocysteine and other cardiovascular risk factors.⁴ NAC is also shown to help reduce oxidative stress and inflammation.⁵

A prescription medical food containing L-methylfolate, methylcobalamin, and N-acetyl-cysteine called Cerefolin®/CerefolinNAC® is specially formulated to address high homocysteine and oxidative stress in the brain, both of which have been associated with cognitive impairment. Cerefolin® has been shown to significantly slow brain atrophy and cognitive decline.⁶

According to Dr. Neil Rawlins, supplementing with NAC can be a good place to start your MTHFR treatment journey. NAC helps to increase levels of glutathione, the body’s most important antioxidant. Glutathione plays an important role in protecting cells from free radical damage and in detoxifying heavy metals and other pollutants.⁷

Most NAC supplements suggest a dosage of around 1,500 mg a day (but some folks may benefit from as much as 2-3 times that amount, depending upon their neurotransmission needs). Check the product dosage instructions carefully and consult your health professional before starting a supplement regime.

Dr. Rawlins suggests taking NAC for 1-2 weeks before beginning methylfolate (the ‘hero’ nutrient) discussed in step 3.  Methylfolate will promote and utilize the intracellular glutathione, so it can be helpful to increase glutathione levels in advance. Starting with glutathione may result in being able to better tolerate methylfolate or allow you to take higher doses.

L-methylfolate is the primary active form of folate in your body required for the conversion of homocysteine into methionine. This is the precise enzyme form that the MTHFR gene makes, but when it is not working due to a mutation, the body can benefit from taking this nutrient form because it gets around the MTHFR gene defect. Taking folate 5-MTHF directly has been shown to significantly increase blood serum folate levels and reduce homocysteine levels.⁸ Methylfolate is also more effective than taking folic acid for lowering homocysteine.⁹

L-methylfolate is critical to the production of neurotransmitters that support normal mood and cognitive function. Studies show that taking methylfolate can help to reduce symptoms of depression, whether taken alone or alongside antidepressants.¹⁰

Folate 5-MTHF has been classified as a ‘medical food’ and is also available as a dietary supplement. However, some of the best methylfolate supplements for those with an MTHFR mutation(s) include Methyl-Life® products (Methylfolate 7.5+, Methylfolate 10, and Methylfolate 15).

B12 is involved in many critical bodily functions, including the making of red blood cells, neurotransmitter production, and nerve function.

Taking folate, B6 and B12 together has been shown to help lower homocysteine levels more significantly than taking folate alone.¹¹ This is because all three vitamins play essential roles in the methylation of homocysteine to methionine.

Supplementation with a highly bioavailable form of vitamin B12 5,000 mcg such as hydroxy B12, methylcobalamin and/or adenosylcobalamin is the most efficient way to ensure optimal levels quickly. This is particularly important for vegans/vegetarians, the elderly, and anyone unable to absorb B12 efficiently.

Methy-Life’s® B12 Complete is ideal for people with genetic mutations that may be affecting B12 absorption. B12 Complete contains a combination of the 3 most bioactive forms of B12 for maximum delivery and absorption, and can be used by the body’s cells immediately. This is a full-spectrum B12 product that is suitable for those with MTHFR, malabsorption disorders, vegans, vegetarians, and anyone else who has difficulty processing or obtaining B12.

Low B6 status can cause homocysteine to accumulate, while also reducing the availability of SAMe for methylation processes.¹²

The active form of vitamin B6 is known as pyridoxal-5-phosphate (P5P), which makes up around 70-80% of vitamin B6 in plasma. It serves as a cofactor for more than 150 enzymes in the body, including the metabolism of homocysteine and tryptophan.

Some research has suggested that clearance of P5P decreases with B6 supplementation, indicating that B6 status affects the rate at which P5P is removed from the body.¹³ Vitamin B6 toxicity symptoms can mimic vitamin B6 deficiency, which is usually peripheral sensory neuropathy.¹⁴ Pay attention to your body’s reaction when you add a new nutrient into your routine and consult your healthcare professional if you experience any symptoms. 

This essential fatty acid has been shown to help reduce homocysteine levels by increasing the amount of active MTHFR reductase enzymes, supporting cognitive and cardiovascular function.¹⁵ Omega-3 travels easily through the blood-brain barrier to interact with mood-related molecules in the brain, and harbors powerful anti-inflammatory benefits.

In the methionine cycle, homocysteine is turned into methionine with the help of an enzyme called betaine homocysteine methyltransferase (BHMT). This process is separate from the one that uses vitamin B12 or folate.

In this process, a molecule called trimethylglycine (TMG) donates a methyl group to homocysteine, turning it into methionine. When TMG gives up its methyl group, it becomes dimethylglycine (DMG). The enzyme BHMT, which contains zinc, makes this process happen using the methyl groups from TMG, which comes from food or from the breakdown of choline.¹⁶ TMG can therefore be an important methylating agent when the folate pathway is impaired.

Glutathione is the body’s most potent antioxidant, required for detoxifying free radicals and maintaining healthy balance within cells. Low levels of glutathione are associated with many pathological conditions, such as arthritis, cardiovascular and neurodegenerative diseases, and diabetes.¹⁷

Homocysteine is converted to cystathionine and cysteine in the transsulfuration pathway. Cysteine is then used to produce glutathione, regenerating antioxidant levels to combat damage by reactive oxygen species. Poor homocysteine metabolism may mean that glutathione synthesis is reduced, leading to an increase in oxidative stress.

Taurine is a non-essential sulfur-containing amino acid and antioxidant that functions in digestion (as part of bile), maintaining fluid balance, and aiding in calcium signaling. It is essential for proper heart, muscle, nerve, and eye function. Taurine has been shown to help to reduce high homocysteine levels and protect the heart and vascular cells.¹⁸

Alongside the B vitamins, magnesium is vital in supporting a healthy mood, cardiovascular function, and nerve function. Magnesium levels can impact central nervous system function, as it plays a role in DNA replication.  Magnesium also has important antidepressant and neuroprotective effects.¹⁹

Always consult with your health professional before stopping any medications or starting any new supplements.

This is not an exhaustive list: