MTHFR Gene Mutation - How To Rewire Your Genetics

What is the MTHFR gene?

The MTHFR gene provides the body with instructions for making methylenetetrahydrofolate reductase - otherwise known as the MTHFR enzyme. This enzyme is important because it helps your body break down foods that contain folic acid and then convert that folic acid into methylfolate. Methylfolate is the active form of folate - the form that your body needs to carry out proper methylation. Methylation is responsible for an enormous range of biochemical reactions necessary for your mind and body to function properly. 

Methylation drives many of your body’s systems and turns biological switches on and off. This is crucial to ensure that your cardiovascular, neurological, reproductive, and detoxification systems perform optimally.

What is a MTHFR gene mutation?

The problem with the MTHFR gene is that it has the potential to mutate. Some sources claim that 30-60 percent of people have a mutated MTHFR gene (known as a MTHFR mutation or variant). The mutation means that your body can’t produce the MTHFR enzyme properly, which means you can’t break down folic acid from food or supplements. As a result, you may end up with low levels of folate and other B vitamins. 

The MTHFR gene C677T mutation affects around 25% of the global population, with those of Hispanic descent representing the highest frequency (47%), followed by Europeans at 36%.  [1] The MTHFR 1298AC mutation is also present in about 25% of the global population, occurring most frequently in those of South East Asian descent (42%) and Europeans (31%). 

Folate (vitamin B9) is an essential nutrient and a critical cofactor in one-carbon metabolism. It is required for numerous functions of the brain and nervous system. 

Low folate can be a serious problem. It’s involved in protein metabolism and the formation of red blood cells, DNA and RNA, all of which are needed for healthy development and cell repair. This is especially important during pregnancy when the fetus is developing. 

Folate also plays a major role in creating neurotransmitters, also known as the ‘brain chemicals’ that contribute to normal mood. 

Folate is also required for breaking down the amino acid homocysteine, which can be extremely harmful to the body when in excess. 

For these reasons, the long-term effects of a MTHFR mutation can have a major impact on your health. It can increase your risk of numerous health issues, such as heart disease, stroke, depression, neurodegenerative disorders, and more. 

MTHFR gene mutation symptoms 

MTHFR gene mutation signs and symptoms vary between individuals and variants. While MTHFR gene mutation physical signs are rare, some of the conditions associated with MTHFR may be due to nutritional deficiencies, particularly folate.

Mthfr gene mutation symptoms in adults may include:

• Depression, anxiety, and other mental health disorders

• ADHD (Attention Deficit Hyperactivity Disorder)

• Autism

• Autoimmune disease and thyroid issues

• Cardiovascular disease

• Thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)

• Chronic fatigue

• Diabetes

• Psoriasis

• Digestive issues, including IBS (Irritable Bowel Syndrome)

• Hormonal issues, including PCOS (Polycystic Ovary Syndrome)

• Migraines

• Schizophrenia

• Nerve pain

Folate plays a crucial role in the proper growth and development of the fetus. Brain development starts from conception, and the fetus then undergoes rapid growth and development, especially in the first trimester. For this reason, low folate levels prior to conception and during pregnancy have been associated with congenital abnormalities in the baby.  [2] MTHFR gene mutation signs in babies may include neural tube defects such as spina bifida and anencephaly.  [3]

Low folate levels in women of childbearing age can also result in health concerns for the mother, such as recurrent miscarriages and anemia. 

MTHFR gene mutation and vaccines

Many people are concerned about the MTHFR gene mutation and vaccines, but information is limited. Some research has reported that genetic polymorphisms such as MTHFR may cause adverse reactions to the smallpox vaccine, which appeared to cause a rash and/or enlarged lymph nodes. [4]

Currently, there is very little information regarding the MTHFR gene mutation and covid vaccine. Those with MTHFR variants are advised to consult their health practitioner if they are concerned. 

Treatment for a MTHFR gene mutation 

Depending on the variant of the mutation, stores of certain nutrients are likely to be low. This will affect the body’s ability to carry out a number of other important processes: methylation, metabolizing harmful homocysteine, creating neurotransmitters, supporting cells and tissues, detoxification, and more. 

Here are a few suggestions for MTHFR gene mutation treatment.

Get a MTHFR gene mutation test

Genetic testing for a MTHFR mutation may help to explain certain symptoms or health issues, such as high homocysteine or depression. This makes it possible to explore options for supplementation and other treatment.

Testing methods for identifying an MTHFR mutation include saliva tests, genetic blood tests, and/or a DNA panel test. Each method varies significantly in terms of cost and the amount of information that can be obtained about your genetics. It’s also important to have your homocysteine levels checked, as folate deficiency can result in elevated levels of homocysteine.  [5]

Repair your digestive system

Your MTHFR gene mutation treatment should begin with healing the gut. Nutritional deficiencies such as those caused by MTHFR can trigger inflammation in the gut and compromise the body’s ability to repair damaged cells. 

Your diet should include foods rich in protein and probiotic bacteria to help restore the integrity of the digestive tract. Avoid processed foods. Include hormone-free, grass-fed meats, and organic cage-free eggs where possible. 

Take supplements 

Supplementation is often the most efficient way to restore a deficiency. Supplements for a MTHFR gene mutation should include:

• 5-MTHF/L-methylfolate: Supplementing with methylfolate is highly recommended.This is an active form of folate that can bypass the MTHFR genetic mutation and take part in the many important processes requiring folate. Methylfolate is required for numerous functions of the brain and nervous system, including proper methylation, the metabolism of homocysteine to methionine, neurotransmitter production, nervous system maintenance, normal fetal growth and development, immune system maintenance, and formation of myelin.

• Methylcobalamin (active vitamin B12): B12 works alongside folate in many essential processes, including the conversion of homocysteine to methionine. The MTHFR genetic mutation can impair B12 absorption, and low levels of B12 are especially prevalent in those with the C677T variant.

• Vitamin B6: (Pyridoxal 5’-Phosphate) Vitamin B6 is required for the breakdown of homocysteine to taurine and cysteine, hemoglobin production, and the healthy formation of the myelin sheath that surrounds and protects nerve cells.

• Omega 3 fish oil: This essential fatty acid can help reduce homocysteine levels and support cognitive and cardiovascular function. It passes easily through the blood-brain barrier and harbors powerful anti-inflammatory benefits.

• Vitamins C, D, E: These three vitamins play crucial roles in immune function and inflammation. All three vitamins are important antioxidants.

• Probiotics: Probiotic bacteria help to restore the integrity of the gut and support the immune system, as well as assisting with neurotransmitter production (particularly serotonin).

• Magnesium: This essential nutrient is a cofactor in almost all enzymatic systems involved in methylation, including RNA and DNA synthesis.

The takeaway

A MTHFR mutation doesn’t necessarily mean you will be affected by symptoms. By following the right lifestyle protocols and supplementing with nutrients that support methylation (methylfolate, B12, and vitamin B6), you may be able to significantly reduce the risk of nutrient deficiencies and MTHFR symptoms. 

Eat antioxidant-rich anti-inflammatory foods to help protect cells from risk factors associated with chronic disease, and seek help from a qualified health professional where necessary. 

Learn more about how to restore good health when living with MTHFR at Methyl-Life®. 

References

1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630484/

2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218540/

3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385168/

4. https://pubmed.ncbi.nlm.nih.gov/18454680/

5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436268/