MTHFR Gene and Miscarriages

Pregnancy | | Natasha Weiss
4 min read

Fertility can be a difficult and emotional journey, especially if you’ve experienced difficulties with conception or miscarriages. One of the reasons this can be so difficult is the unknown. Not knowing why your body isn’t doing what you’re hoping it will do. Unfortunately, there isn’t always a clear reason, but there is one scientific breakthrough that has offered an explanation for some people. In your genetic code there lies insights into fertility and the reason certain people experience repeat miscarriages. This is what’s called the MTHFR gene mutation.

What is MTHFR?

 Your DNA and the genes that comprise is essentially an instruction manual for your body. The MTHFR gene in particular gives your body instructions for making an enzyme called methylenetetrahydrofolate reductase – MTHFR for short. When you ingest food, the body works to convert nutrients into material it can actually use for energy and sustenance. MTHFR helps your body process amino acids, which are the building blocks of protein. MTHFR helps facilitate the chemical reaction of converting vitamin B9, or folate, into a kind of folate the body can actually use, called 5-methyltetrahydrofolate. This vitamin in turn, is necessary for creating DNA.

Gene Mutations of MTHFR

 The MTHFR gene can have one or two mutations, or variants. A variant means that this piece of DNA is different from the average person. These two variants are called C677T and A1298C. Don’t worry, you won’t be quizzed on this. Again, it’s possible to have both of these mutations if both your parents happen to have one of each mutations and pass them on to you. Nothing happens for this mutation to occur, it’s just passed on through your parents. Many people live with these with no issues, and there isn’t clear research on whether or not it’s actually linked to specific health issues.

People with an MTHFR gene mutation may be more likely to develop disorders including:

  • Mental health disorders like depression, anxiety, bipolar disorder, and schizophrenia
  • Cardiovascular disease
  • Migraines
  • Nerve pain
  • Acute leukemia
  • Chronic pain and fatigue

Another possible complication from the MTHFR gene is difficulties with fertility.

 MTHFR Mutation and Fertility

 People with an MTHFR gene mutation may have a higher risk of miscarriage, preeclampsia, or having a baby born with certain birth defects, like spina bifida. One condition that can come from an MTHFR mutation is Hyperhomocysteinemia. This is when someone’s homocysteine (an amino acid) levels are higher than normal. Hyperhomocysteinemia can also lead to low folic acid levels.

Folate is a B vitamin that can be found in many foods like dark leafy greens, broccoli, and beans. During pregnancy, it helps the baby grow by making and repairing DNA and producing red blood cells. Folic acid is a synthetic form of folate that is recommended for many people to take during pregnancy to support neural and spinal development in the fetus. If someone has an MTHFR defect, folate doesn’t break down properly, which can affect pregnancy and the development of the baby. While current scientific evidence doesn’t tie a specific link between and MTHFR and pregnancy loss, many people who have had multiple miscarriages have the MTHFR gene mutation.

Moving Forward: Pregnancy with MTHFR Mutation

 An MTHFR mutation is fairly common, and many people with this gene mutation are able to carry a pregnancy to full term, with and without extra support. If you’ve experienced reoccurring miscarriages or difficulties with fertility, know that we are sorry. It may be helpful for you to undergo genetic testing to see if an MTHFR mutation may be at play. Testing for an MTHFR mutation can be very expensive and is not typically done routinely. Your provider may recommend it if you have a family history of it, had genetic issues with another pregnancy, or have had multiple miscarriages.

Depending on your results, your provider may recommend a few different treatments to help you move forward in your fertility journey:

  • L-methylfolate supplementation: This can be taken as a prenatal vitamin. This form of folic acid is more bioavailable, meaning that someone with an MTHFR mutation may actually be able to use this supplement versus taking a regular folic acid supplement that hasn’t yet been converted.
  • Heparin or Lovenox injections: People with an MTHFR gene mutation may form blood clots between the uterine wall and developing placenta. These medications may help prevent blood clots from forming when prescribed early during pregnancy.
  • Aspirin: Daily use of aspirin during pregnancy may also help prevent blood clots from forming. Although there isn’t clear evidence to back this up, it hasn’t been found to be harmful in pregnancy and may help people who have clotting disorders, preeclampsia, or recurrent pregnancy loss.

Infertility doesn’t always have a straightforward answer, something you’re well aware of if you struggle with it. While learning the science doesn’t take away the emotions you may be feeling, it can help you better understand the biology of fertility and possibly a clue into what’s going on.

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