Becoming a parent is not only joyful but also a responsible step. You take care of each and everything from the beginning but unfortunately, sometimes things don’t go as planned and a miscarriage happens. After all the tests and investigations, a few of the expecting parents get diagnosed with having a gene variant of MTHFR. Presence of an MTHFR gene variant disrupts a cascade of normal body processes, which play an important role in sustaining a pregnancy.

What is MTHFR? What does it do?

MTHFR is an abbreviation for methylenetetrahydrofolate reductase, a gene which regulates the 5-MTHFR enzyme. This enzyme is responsible for converting homocysteine (an amino acid) to methionine (an essential amino acid) in the body. Methionine mediates some of the vital cellular activities, such as DNA and RNA production and protein formation. Regular production of DNA, RNA and protein lays the foundation of healthy tissue growth, cell rejuvenation, blood cell and haemoglobin production, good quality egg and sperm production, healthy uterine and foetal tissue growth, and so on. This tells us how important the MTHFR gene is for the normal functioning of the body. (1)

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How is MTHFR related to miscarriage?

MTHFR regulates homocysteine levels in the body. If you carry its variant, the whole transmethylation cascade through which methionine provides methyl groups for folate formation gets disturbed. In people who carry one copy of the variant, the MTHFR enzyme activity is reduced to 35% of that in normal people and to 70% in those who have both the copies of the gene variant (one from each parent). According to research, in people carrying both copies of the variant the risk of miscarriage is 3.3 times higher as compared to their apparently normal counterparts. Studies also showed that on an average, women carrying the C677T MTHFR gene variant reported having had nearly four miscarriages in life. (2)

● Damage to placental blood vessels
● Growth of low-quality uterine tissue, which has a very low potential to sustain pregnancy
● Blood clot formation in the placenta
● High risk of mental health disturbances, such as anxiety and depression.
Further, low folate levels increase the risk of:
● Genetic and developmental defects in the foetus.
● Abnormal placental growth

Because of the factors mentioned above, there are high chances of disruption or complete blockage of foetal nutrition due to placental abruption (detachment) leading to a miscarriage or stillbirth. (3,4)

I am carrying the MTHFR gene variant. How can I prevent a miscarriage?

Conception and the whole pregnancy period can be overwhelming, especially when you have a gene variation present due to which you have already had a miscarriage in the past. But by following this 4Ts rule- testing, treatment, taking care and telling the others, you and other women like you can enjoy motherhood even with an MTHFR polymorphism. Let’s discuss these 4Ts in detail.

Testing for MTHFR

The MTHFR test is recommended only after other potential causes of a miscarriage have been ruled out and you have a blood report showing raised homocysteine levels or a family member having an MTHFR polymorphism. This test is done to identify the most commonly occurring variants of this gene – C677T and A1289C and whether you carry one or both of its copies. It is usually performed by taking your blood sample or a swab from the inside of your mouth (buccal swab). You can read more about how to interpret your MTHFR test result here. (5)

MTHFR Treatment

You must be wondering if a genetic disorder could be treated. Well, the answer is no. But the good thing is that it can be managed. To prevent the effects of MTHFR polymorphism on pregnancy, doctors may prescribe you methyl folate supplementation with or without blood-thinning medication. For those carrying a single copy of the gene, a dose of up to 2 mg (2000 mcg) and if you carry both the copies, up to 5 mg (5000 mcg) of methyl folate per day will be prescribed. However, the dosage varies from person to person. You can go through our preconception guide to get an idea of the dose that may be best for you. Methyl folate supplementation complements dietary folate and helps both the partners produce health and quality eggs and sperm. It also reduces the risk of miscarriage and developmental defects in the baby. (6)

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Blood thinners prevent the formation of blood clots in the mother’s body as well as in the placenta. Your doctor may recommend low molecular weight (LMW) aspirin or baby aspirin and heparin for the same. Research shows that women with MTHFR polymorphism who receive methyl folate supplementation with LMW aspirin and heparin were able to complete full-term pregnancy without complications. (7)

Taking care of MTHFR patients

Needless to say, pregnancy is all about taking good care of your physical and mental health. But special care is needed when you have gene variation present. The key here is to have your diet planned out and managing your lifestyle. Since your body is deficient in folate, eat more of food items that are rich in methyl folate, such as raw leafy greens. Check out our list of folate-rich food items that you can have to lower the effects of MTHFR polymorphism. Research suggests that physical activity, stress management and not using tobacco are associated with low homocysteine levels. for the right kind of exercises that you can do, hobbies you can pursue and other relaxation techniques that can be useful, such as yoga and meditation. (8)

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Telling the others

MTHFR gene variation does not present with characteristic symptoms per se but shows features of hyperhomocysteinemia. However, if you come across couples who have been trying to conceive, have had multiple miscarriages and no conclusive diagnosis of the problem, do inform them about MTHFR and encourage them to speak to their physician. Your advice and timely testing for MTHFR may save them a lot of time, energy, money, and emotional struggle and help them come out of this situation with a good solution.

Conclusion

Thinking about or experiencing a miscarriage is daunting for every couple. The emotional struggle is huge and couples usually do not have an idea what went wrong. Being a little careful of the warning signs, such as feeling tired and exhausted, having anxiety for a long time, a family history of similar pregnancy outcome patterns due to MTHFR and a past experience of miscarriage(s), can prevent this from happening in your future pregnancy. Keep the 4Ts in mind and do seek help from your doctor to overcome this situation and have safe parenthood.

Want to learn how to have a healthy pregnancy when you have the MTHFR gene?

References

1. Folic Acid: Birth Defects COUNT Questions and Answers. Centres of Disease Control and Prevention. Viewed 2021
2. Weisberg I, et al. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998 Jul;64(3):169-72.
3. Altomare I, et al. The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature. Thromb J. 2007;5:17.
4. Kupferminc MJ. Thrombophilia and pregnancy. Reprod Biol Endocrinol. 2003;1:111.
5. MTHFR Mutation Test. Medline Plus, National Library of Medicine. Viewed 2021.
6. Vanilla S, et al. Evidence of Paternal N5, N10 - Methylenetetrahydrofolate Reductase (MTHFR) C677T Gene Polymorphism in Couples with Recurrent Spontaneous Abortions (RSAs) in Kolar District- A South West of India. J Clin Diagn Res. 2015;9(2):BC15-BC18.
7. Merviel P, et al. Comparison of two preventive treatments for patients with recurrent miscarriages carrying a C677T methylenetetrahydrofolate reductase mutation: 5-year experience. J Int Med Res. 2017;45(6):1720-1730.
8. Dankner R, et al. Physical activity is inversely associated with total homocysteine levels, independent of C677T MTHFR genotype and plasma B vitamins. Age (Dordr). 2007;29(4):219-227.