What is MTHFR Gene Mutation, and Should I Be Worried About It?

MTHFR gene mutation is a daunting sounding description, and that is just the acronym!  The MTHFR gene is responsible for giving information to the body so that it will properly make the enzyme methylenetetrahydrofolate reductase. This enzyme is necessary for the body to process folate (B-9) which is prerequisite to the body converting homocysteine to methionine. (Homocysteine and methionine are amino acids, which are building blocks for proteins.)

Without methylenetetrahydrofolate reductase, homocysteine can build up in the blood and the body will not have the necessary methionine.¹

MTHFR gene mutation is considered to be a risk factor for a number of health problems, including the following:²

• Heart disease
• Stroke
• High blood pressure
• Preeclampsia
• Birth defects
• Glaucoma
• Seizures
• Lichen Planus
• Rheumatoid Arthritis

Compensating for MTHFR Gene Mutation

Intimidating as MTHFR mutation sounds, it is not a death sentence nor a reason to panic. The reality is that gene mutations, including MTHFR gene mutation, are not uncommon. One type of MTHFR gene mutation is when a person has two copies of the gene C677T. This particular MTHFR mutation is found in 10-15% of Caucasians in the United States and 25% of Hispanics.

Not only are gene mutations common, there are ways to compensate for them. One study³ found that elevated homocysteine levels caused by MTHFR gene mutation could be managed with supplements of vitamin B 12 and folate.

What is the difference between a risk factor and a cause?

When MTHRF gene mutation is discussed in relation to health concerns, it is generally listed as a “risk factor.” For many health issues, there are many “risk factors.” Having one or more of the risk factors does not guarantee that the health problem will exist, neither is it the same thing as a “cause.” A cause is directly associated with the effect.

The increasing understanding of MTHRF gene mutation is a positive step for science and medicine in understanding diseases, treatments and cures. However, it is not necessary for everyone to find out whether or not they have this gene mutation. In fact, most professionals do not recommend testing to find out whether or not your genes have this particular mutation.

Currently the American Heart Association does not recommend testing for MTHFR gene mutations. They do not consider it to be a major risk factor for heart disease. Additionally, the American College of Medical Genetics is also opposed to testing for MTHFR gene mutation, even for patients with blood clots, because the medical protocols will be the same whether or not the mutation is present.⁴

Some women suffer with the devastating physical and emotional effects of repeated miscarriage. It is important for women who experience repeated miscarriage to find a skilled health professional to determine the cause of repeated miscarriage and explore solutions. MTHRF gene mutation can be a risk factor for repeated miscarriage. The good news is that there are treatments that reduce the risk of miscarriage for women with MTHRF gene mutation and allow them to carry to term. A health professional must be involved as the treatment involves the use of the prescription drug enoxaparin, folic acid and low dose aspirin.⁵

It is important to note that most people that have the MTHRF gene do NOT have neural tube defects, and usually their children do not either.

The American College of Medical Genetics and Genomics  does not recommend MTHFR testing for women who suffer with repeated miscarriage, since all women of child bearing age are recommended to supplement with folic acid.⁶

Natural Remedies for MTHFR

There is of course, not a natural remedy to correct a gene mutation. But optimizing health allows the body to maximize its function in spite of many gene mutations. And taking care of your health makes sense whether or not you have a particular gene mutation.

Let Your Food Be Your Medicine

Eat plenty of nutrient rich whole foods.

Avoid processed foods and empty calories.

Pay attention to B vitamins. B vitamins help to reduce homocysteine in the blood. (This is the amino acid that tends to get too high in people with MTHFR gene mutation; but it can be elevated even in those with a normal MTHFR gene.) Foods that contain plenty of important B vitamins include avocado, lentils, asparagus, spinach, broccoli, nutritional yeast, and kidney beans.

Folic Acid

While obtaining your nutrients directly from food is ideal, supplements can make up the difference and help correct imbalances. Even the synthetic form of folate, folic acid, has been found to improve outcome of pregnancies in women with MTHFR gene mutations. Folic acid is a recommended supplement for all women of childbearing age.

Quit Smoking

Smoking can increase homocysteine levels, which would be worse for those who have MTHFR gene mutations. But of course, smoking carries enough risk for disease that everyone should quit smoking, not just those who have a particular gene mutation.

B-Vitamins

In the case of inadequate nutrition, or health conditions that cause poor nutrient absorption, a supplement of B vitamins is often prudent. However, in the case of inadequate nutrition or serious health conditions, a medical professional should be involved to help make sure that proper nutrient balance is achieved over the long term.

Stress Reduction

Reducing stress is healthful for everyone, not just those with a gene mutation. Stress depletes B vitamins.

Should I Worry about MTHFR Gene Mutation?

In conclusion, unless recommended by a health professional, testing for MTHFR is not recommended across the board. Worry is never beneficial, so do not worry about MTHFR gene mutation. Do eat well, live responsibly, supplement wisely and manage stress. If you have chronic health problems, get good medical counsel.

Sources:

1. https://ghr.nlm.nih.gov/gene/MTHFR

2. https://www.ncbi.nlm.nih.gov/pubmed/28463405

3. https://www.ncbi.nlm.nih.gov/pubmed/12204804

4. https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation

5.  https://www.ncbi.nlm.nih.gov/pubmed/28703660

6.  https://www.ncbi.nlm.nih.gov/books/NBK66131/