If you’re pregnant or planning to get pregnant, you should hear about the MTHFR gene. There has been a lot written lately about MTHFR and pregnancy. Some say a mutation in the gene can lead to pregnancy loss and birth defects. But are you at risk for these defects?
Pregnant women need facts when it comes to MTHFR mutations. Especially in terms of what role the mutations may play in pregnancy complications.
If you are concerned about MTHFR and your pregnancy, please speak to your doctor after reading this article. They’ll be able to give medical advice customized to your situation. This is intended to be a general overview, and not medical advice.
What is MTHFR?
The MTHFR (methylenetetrahydrofolate reductase) gene is critical to producing the MTHFR enzyme. The enzyme makes folate metabolism possible. In order words, it helps the body process folate, which is also known as vitamin B9.
You might have seen articles on folate and folic acid. These terms are often used interchangeably, but there are substantial differences. More on those differences later.
Everyone is born with the MTHFR gene as part of their genotype, or collection of genes. If one parent passes on an MTHFR gene with a mutation, the child will get a heterozygous MTHFR mutation. If both parents pass on the mutation, the child will have a homozygous mutation.1
Two of the main types of MTHFR mutations (also known as “variants”) are called C677T and A129BC. The C677T mutation is the one that is linked to problems.2
Can MTHFR Methylation Issues Lead to Mental Issues?
Methylation is a chemical reaction that helps ensure a gene works the way it should. It is not only critical to genes but other biochemical reactions throughout the body.3
MTHFR mutation can sometimes lead to a problem with methylation. Some research links a lack of methylation with mental issues.
Some studies have linked MTHFR mutations to bipolar disorder and depression.4
Many women believe if they have an MTHFR mutation their child will suffer from mental distress or age-related cognitive fading. But not everyone believes a MTHFR mutation means methylation issues will arise. For a MTHFR mutation to cause bigger issues, here’s what needs to happen:
A homozygous MTHFR mutation means both parents passed the mutation to their child. If a woman has a homozygous MTHFR mutation, but the father does not, she may have less to worry about.5
MTHFR Mutation and Homocysteine Levels
The MTHFR gene also plays a role in changing the structure of chemicals in the blood. With homocysteines, an MTHFR mutation helps turn homocysteines into proteins.
If someone’s born with a mutation of the MTHFR gene, that can reduce the activity of the gene. This means the body doesn’t have enough folate. It might have too many homocysteines. If a pregnant woman has a folate deficiency, that could be a risk factor for birth defects.6
Which Factors Influence Homocysteine Levels in the Body?
As we stated earlier, homocysteine levels are very important. If your MTHFR gene works properly, B vitamins break down homocysteines. If it doesn’t, then your homocysteine levels will be too high. There should actually be very few homocysteines in your blood.
When someone has too many homocysteines, they have hyperhomocysteinemia.7
Elevated homocysteines can lead to serious problems for some unborn children.
One of them is a condition known as homocystinuria. This impairs a child’s joints and eyes and could also lead to cognition problems.
Too many homocysteines could also increase issues in the cardiovascular system.8 An excess amount of homocysteines can lead to venous thromboembolism — dangerous blood clotting in the arms or legs.9 The condition could result in the need to take a blood thinner later in life.
That said, this does not happen in all cases, and the best thing you can do is to consult your doctor and discuss your specific genes and pregnancy.
MTHFR Mutation and Pregnancy Loss
Is there a link between an MTHFR mutation and pregnancy loss? There needs to be more research. That said, some research indicates high homocysteine levels could increase the risk.
Elevated homocysteines have been linked to pregnancy loss. But there is evidence showing that homocysteines don’t necessarily cause these complications. Rather, they are a consequence of the complications.10
Folate and Pregnancy
An MTHFR gene mutation can reduce folate production so it’s important for pregnant women to know how important this vitamin really is. Folate is found in many foods. Leafy green vegetables are some of the high folate foods you’ll find at your local grocery store. Try the following:
Folate is critical to making sure that a baby’s nervous system develops properly. The consequences of nervous system birth defects can be devastating.
Other folate-rich foods include in-season fruits and nuts.11
Folic Acid and Pregnancy
Folic acid is also a B vitamin. The difference between folic acid and folate is the body produces folate from food. This is a natural process. The body can’t make folic acid. It has to be added to food.
It’s also available in the form of folic acid supplements, and is often included in prenatal vitamins. When looking for a prenatal vitamin, look for one with plenty of folic acid.
Folic acid helps the body produce red blood cells. These cells help transport oxygen from the lungs to the rest of the body, so it is essential for proper development.12
MTHFR Mutations and Birth Defects
We briefly touched on a specific type of MTHFR gene mutation known as C677T.
Research indicates that women with two C677T variants are at a higher risk of giving birth to a child with a neural tube defect.13 That doesn’t mean it’s automatically going to happen. It just means the chances are higher. Again, it is important to speak with your doctor if this is something you’re concerned about.
Can Prenatal Vitamins Reduce Your Risk of an MTHFR Defect?
Pregnant women want to do everything they can to protect the health of their children. Some women have considered taking vitamins during pregnancy. This might help reduce the risk of birth defects.
There are several vitamins to choose from. We already covered the importance of folate for pregnant women with an MTHFR defect. Here are a few other prenatal vitamins some women take in supplement form.
Vitamin D – This vitamin helps promote healthy bone development.
Vitamin C – Vitamin C also helps with bone development. In addition, it helps to make sure the mother’s immune system remains strong.
Copper – Copper helps to make sure the baby’s nervous system, heart, and red blood cells develop as they should.
Zinc – Zinc plays a role in the immune system and cell development.
DHA – DHA (docosahexaenoic acid) is a type of omega-3 fatty acid. It is also known to help the nervous system develop properly.14
You and your doctor can determine the best plan to make sure you – and your baby – are getting the nutrients needed. This plan will help ease your mind during the first few weeks of gestation. This can also help you relax throughout the remainder of your pregnancy.
Should a Pregnant Woman Undergo Testing for MTHFR Deficiency?
The short answer is “no.” You may have heard of this test, and assume you want to take it for your child’s sake. But it is not recommended for pregnant women.
Your baby will be checked for the MTHFR mutation as part of routine blood screening. This screening is performed to check for a wide range of diseases.15
Be Aware, But Don’t Obsess
Your doctor will closely monitor your pregnancy and let you know if there’s anything to worry about. There’s every chance you won’t have any issues. So relax and get excited about the upcoming addition to the family.
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