Abnormal MTHFR and possible consequences

MTHFR stands for methylenetetrahydrofolate reductase. A genetic mutation within this gene can lead to high levels of homocysteine in the blood and low levels of folic acid and the other B vitamins B12 and B6. There are concerns that certain health problems are linked to MTHFR mutations, so research into this issue has become more widespread over recent years.

MTHFR gene mutation and possibility of pregnancy

The MTHFR gene has about 50 mutations, with an incidence ranging from 20 to about 30% in Europe. Whether we have a mutation of this gene in our case is worth checking if:

in the process of trying to have a child, the couple suffered a miscarriage,
the woman was using hormonal contraception for a long period of time,
you have a family history of problems with blood clots and abnormal levels of homocysteine (an amino acid that, like 'bad' cholesterol, is involved in the development of atherosclerosis).

The presence of mutations within the MTHFR gene promotes reduced folic acid absorption and may have an impact on the elevation of homocysteine concentrations in the blood. In addition, it can lead to interference with the conversion of vitamin B12 to its active form, as well as interfering with the synthesis of glutarate. The mutation can also manifest itself in problems with implantation of the fertilised embryo, miscarriages or eventually cause fetal abnormalities.

MTHFR mutation - symptoms

Symptoms vary from person to person and from mutation variant to mutation variant. However, they are not characteristic symptoms. This means that the gene mutation itself is not clearly linked to any disease. It is likely that if you do not have noticeable problems or do not carry out tests, you will never know that you have this mutation.

Certain diseases or signs that may be associated with MTHFR include:

cardiovascular and thromboembolic diseases (especially blood clots, stroke, embolism and myocardial infarction),
depression or anxiety,
colorectal cancer,
chronic pain and fatigue,
migraines,
recurrent miscarriages in women of childbearing age,
pregnancies with neural tube defects such as spina bifida and anencephaly.

Is it possible to have a successful pregnancy with MTHFR?

There are different types of mutations that can occur in this gene. Some may affect pregnancy more than others. Mutations can also affect other body systems, such as the heart. During pregnancy, women with a mutated MTHFR gene may have a higher risk of miscarriage or having a baby with birth defects.

Why does this happen? Defective MTHFR can be associated with hyperhomocysteinemia - a condition in which homocysteine levels are elevated. High homocysteine levels, especially when folic acid levels are low, can lead to the complications previously described. Excess homocysteine promotes the development of thrombosis, which is one factor in miscarriages and other pregnancy pathologies.

Treatment consists of preventing the adverse effects of folic acid deficiency and implementing injections to prevent blood clotting.

How do we support our body?

Mutation of the MTHFR gene inhibits the way the body processes folic acid and other important B vitamins. Changing the supplementation of this nutrient is a potential way to counteract the effects of the mutation. Dietary changes and taking supplements that contain a combination of folic acid and folate (activated folic acid) are particularly recommended. It is worth discussing the correct dose with your doctor to avoid a deficiency or overdose.

Folic acid - the most effective of natural sources

Mutation of the MTHFR gene results in impaired folic acid intake. I advise my patients to eat as many foods as possible that contain natural folic acid. I recommend a diet rich in broccoli, asparagus, spinach, beetroot, Brussels sprouts, citrus, raspberries, strawberries, orange and pineapple juices, sprouts, plenty of raw fruit and vegetables, sunflower seeds, peanut butter, and egg yolks.

A proper diet will lower homocysteine levels

By including products rich in vitamin B6 in the diet, such as bananas, turkey, liver, salmon, cod, spinach, garlic, kale, celery, cabbage or broccoli, and in B12 (meat, fish, seafood, eggs, dairy products), we can lead to a reduction in homocysteine levels in the blood. These vitamins ensure that the body's normal metabolic processes of cells and their regeneration take place.

Vitamin B - only if needed

People struggling with the MTHFR gene mutation should avoid including highly processed foods in their diet, as well as sweets with total sugars. Soluble coffee is also on the list of foods that should be eliminated from the diet. Our body uses very large amounts of B vitamins to process and metabolise such foods.

Include glutathione-containing products in your diet

If the MTHFR gene is mutated, there may be a problem with the synthesis of glutathione, which is a powerful antioxidant. For this reason, it is useful to include in the diet products such as avocado, asparagus, broccoli, Brussels sprouts, garlic, onions or cabbage. A diet rich in these products can not only contribute to pregnancy, but will also reduce the risk of fetal malformations.