MTHFR polymorphism gene and Pregnancy
Understanding what the MTHFR gene is and whether you may be at risk from it is essential, especially for woman as it may influence your ability to get pregnant, affect your pregnancy or the health of your future child. We’ve put together a brief summary containing all you need to know about what it is, how to get tested for it, and how it may affect your fertility.
What is Methylation?
Methylation is a key process involved in a significant number of other biochemical pathways in the body, making it an incredibly important process for a person's overall health and wellbeing.
Pathways methylation is involved in include:
DNA & RNA synthesis and repair
Gene expression & regulation
Hormone regulation
Energy production
Detoxification
Neurotransmitter production
What is the MTHFR gene?
Every human body has the gene 5-methyltetrahydrofolate, also known as MTHFR. The gene is involved in breaking down folic acid and creating folate in the body. There are various health issues that can result if a person has insufficient folate, or if their MTHFR gene is malfunctioning. This is especially important for women, as those who have an MTHFR gene mutation, may have an elevated risk for pregnancy related conditions such as miscarriages, birth defects, and preeclampsia,
Effects of the MTHFR gene in pregnancy
The MTHFR gene is involved in the breakdown of folic acid in the body, which produces elevated levels of homocysteine (which is produced when folic acid breaks down). If folic acid isn’t broken down properly, it can block the body’s ability to obtain adequate folate. Hyperhomocysteinemia (elevated homocysteine levels) are frequently seen in people who test positive for the MTHFR mutation gene. For women, it is these high homocysteine levels, coupled with low folic acid levels, that can lead to pregnancy complications.
Risk factors associated with the MTHFR gene mutation
MTHFR gene mutations are very common within the population and are genetically passed on from parent to child. There are many types of mutations that can occur with this gene, with only some of them affecting pregnancy. Women may be at an increased risk of having the gene mutation if they have suffered from repeated pregnancy losses, birth defects (like spina bifida) or a previous history of preeclampsia, with these groups often testing positive for the gene mutation.
Testing for MTHFR
While screening for the MTHFR gene mutation isn’t necessary for all women, it is recommended if you have had recurrent miscarriages, have a child born with birth defects, have a known family history of MTHFR gene mutation, or any other genetic issues with previous pregnancies. The test is self-administered and easy to do at home as an oral swab test, with results normally available two weeks following test completion.
Treatment for MTHFR
A positive MTHFR test result is in no way a negative thing, it is relatively easy to support and will enable us to create a comprehensive tailored program to support you - both in preconception and during pregnancy.
We encourage patients who have tested positive to the gene mutation to focus on getting as many nutrients as they can through their diet, focusing on whole fresh foods, eliminating processed foods, sugar, gluten, and dairy if needed. Elimination of all foods fortified with folic acid, instead opting for natural sources of folate (leafy greens, lentils, and beans) is a great way to support your health.
