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The Role of MTHFR in Infertility and Miscarriages

It is quite common to have a MTHFR genetic defect. In fact, about 50% of the population has a mild defect in this gene and about 25% of the population are more seriously affected by this defect. 

But what is the MTHFR gene anyways?

The MTHFR gene is related to how your body metabolizes and converts nutrients from your food into active vitamins, minerals, and proteins that you can use. The gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase which plays an important role in the processing of amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is particularly important in the metabolism of folate (vitamin B9) by converting a molecule called 5,10-methylenentetrahydrofolate into a molecule called 5-methyltetrahydrofolate, which is required for the conversion of homocysteine to methionine. Homocysteine is produced when our bodies break down folic acid to folate. 

If the MTHFR gene is not working properly and not converting homocysteine to methionine, then there will be elevated levels of homocysteine. When there are elevated levels of homocysteine, our bodies cannot properly break down folic acid to folate which will eventually lead to a deficiency in folate.   

What happens if you have a variant of the MTHFR gene?

The two most common variants of the MTHFR gene are C677T and A1298C. If an individual has two C677T variants of a gene or a C677T and an A1298C variant, they will often test positive for elevated homocysteine levels. 

People with the C677T MTHFR variant have a 40-60% reduced ability to produce methlyfolate, the body’s most active form of folate. Methylfolate is a very important nutrient that affects neurotransmitter production, DNA regulation (both the making and repair of), immunity, production of red blood cells, and the cardiovascular system. Furthermore, because the variant C677T of the MTHFR gene is not converting homocysteine to methionine as effectively, C677T is associated with elevated homocysteine levels which have been linked to recurrent miscarriages, pre-eclampsia, and infertility. 

Complications associated with a MTHFR variant

Women with a positive MTHFR gene mutation may have an increased risk of complications during pregnancy which include miscarriages, pre-eclampsia (high blood pressure during pregnancy), and the inability to conceive. Also, the MTHFR variant increases the risk of spina bifida and anencephaly in the child. Spina bifida is a birth defect where the spinal cord protrudes from the baby’s back, causing nerve damage. Anencephaly is a birth defect where the child is born without parts of their brain or skull and few babies live past their first weeks. 

What can be done if you have a variant of the MTHFR gene?

The good news is that if you have tested positive for a MTHFR variant, there are many lifestyle steps that you can take to help your body out! We recommend eating a healthy, balanced diet of non-GMO foods. Eating leafy greens will increase your intake of folate, while eating eggs, nuts, beans, and nutritional yeast will increase your intake of B12. Because the MTHFR gene mutation can decrease your body’s ability to detoxify, avoid an inflammatory diet, eat lots of fiber, sweat regularly, stay well hydrated, and avoid household toxins. Additionally, avoid or decrease your consumption of alcohol because alcohol can exacerbate symptoms associated with the MTHFR mutation. Lastly, high stress impedes your body’s ability to function well so try adding in a daily practice of meditation or yoga to decrease your stress levels! Before changing anything in your diet or lifestyle, we recommend coming to speak with us or a healthcare professional.