Did you know that the MTHFR gene mutation can cause fertility challenges and miscarriages? Moreover, 40% of people have the MTHFR gene mutation, which often goes undiagnosed.

MTHFR is a gene that provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is essential for a chemical reaction involved in making nucleotides, the building blocks of DNA.

In simple terms, the MTHFR gene mutation means that your body cannot convert folic acid into the methylated form called 5-methyltetrahydrofolate (5-MTHF). This inability to convert folic acid can lead to a build-up of homocysteine in the blood, which is a risk factor for recurrent miscarriage, increased blood clots, pre-eclampsia, birth defects, and chromosomal abnormalities.

If you’re worried that you may have the MTHFR mutation then read on to discover what it is, why methyl folate is important, diagnosis and testing, signs and symptoms, treatment, and natural ways of managing it.

What is MTHFR Gene Mutation?

MTHFR gene mutation is a condition that affects the way your body processes folic acid and vitamin B9.

Heterozygous or Homozygous

There are two ways to have the MTHFR mutation. If you have one mutation you are said to be heterozygous, which is less likely to contribute to health issues. If you have two mutations, you are said to be homozygous. While some experts believe a homozygous mutation could lead to more serious health concerns, it’s important to keep in mind that research on MTHFR and its effects is still evolving. Homozygous individuals do need to avoid synthetic folic acid and typically require more methyl folate supplementation than heterozygous individuals.

How Does it Affect Fertility?

MTHFR gene mutation can affect fertility in both men and women. In men, the mutation can cause problems with sperm production and motility. In women, MTHFR gene mutation can affect women in numerous ways:

1. Menstrual cycle

Methylation is essential for the growth of your endometrium and egg during each of your menstrual cycles. Because the endometrial growth prepares for the fertilised egg to implant, a disruption in methylation can affect implantation.

Studies have shown MTHFR homozygous women have a reduction in egg quality, likely due to the follicle rupturing before the oocyte is mature enough.

2. Hormones

Homocysteine and healthy folate metabolism are crucial for hormone balance and hormone responsiveness.

The follicles of women with MTHFR make less oestrogen and have ovaries that are less responsive to follicle-stimulating hormone during ovulation.

3. Blood Vessel Health And Blood Clots

MTHFR may increase the risk of blood clots. The blood clots and blood vessel problems could interfere with implantation and embryonic development or cause pre-eclampsia. There is also a risk of “low-flow maternal placental interference”, which is a blood clot between the uterine wall and growing placenta that prevents the nutrients from being transported to the baby.MTHFR blood clotting disorder can occur both during early or late in pregnancy. When occurring in early pregnancy, it can cause repeated miscarriages.

4. Autoimmunity

Homocysteine is an inflammatory amino acid that promotes autoimmunity. The autoimmune cells may also contribute to miscarriage or other pregnancy complications.

Why is Methyl folate So Important?

If you have an MTHFR gene mutation, you may need to take a higher dose of methyl folate than someone without the mutation. Methyl folate is a form of folate that your body can use to make healthy cells. It’s essential for people with an MTHFR gene mutation because their bodies don’t process folic acid properly. Folic acid is the synthetic form of folate.

Diagnosis and Testing

It is easy to get tested for the MTHFR mutation, although this is not done as a standard protocol by many healthcare providers. At Plan Yourself Pregnant, as part of our initial assessment, we’ll always recommend that our clients get a blood test to assess levels of homocysteine in the blood.

What are the Signs and Symptoms of MTHFR Gene Mutation?

MTHFR gene mutation can cause a variety of signs and symptoms. Some people with the mutation have no symptoms, while others may experience many problems.

Symptoms of MTHFR gene mutation can include:

• Anaemia: Anaemia is a condition that causes low levels of red blood cells. This can cause symptoms like fatigue, shortness of breath, and dizziness.

• Depression: People with an MTHFR gene mutation may be more likely to experience depression.

• Neurological problems: People with an MTHFR gene mutation may experience neurological problems, such as migraines, seizures, and dementia.

• Mood swings: People with an MTHFR gene mutation may have mood swings.

• Anxiety: People with an MTHFR gene mutation may be more likely to experience anxiety.

• Pregnancy problems: Women with an MTHFR gene mutation may have a higher risk of miscarrying or having a baby with a congenital disability.

• Fatigue: People with an MTHFR gene mutation may experience fatigue.

Treatment and Management

There is no cure for MTHFR gene mutation, however, diagnosis and management are essential. Here are some things you can do:

1. Get Supplements That Are Right For Your Body

Avoid self-prescribing supplements because sometimes you can do more harm than good. Get our help to discover the nutrients that are right for your body. Read 5 Mistakes Everyone Makes With Fertility Supplements to find out more about the common mistakes most people make with fertility supplements.

2. Avoid Things That Inhibit Folic Acid Absorption

Folate can be easily destroyed by heat, therefore it’s important to avoid eating overcooked fruits and vegetables. Studies have shown catechin, an antioxidant found in both green tea and black tea can block the absorption of folic acid. Antacids can also interfere with the body’s ability to absorb folic acid and other nutrients from food.

3. Eat A Healthy Diet

A healthy diet is essential for everyone, but it’s necessary for people with an MTHFR gene mutation. Eating a balanced diet can help improve your overall health and reduce your risk of developing complications. However, the diets should have more methyl-donor foods, such as grass-fed beef, organic chicken, wild-caught fish, and leafy greens. Spinach, okra, and turnip greens have a high natural folate content.

4. Avoid Alcohol

Alcohol is a threat to your health, and it can be hazardous for people with an MTHFR gene mutation. Alcohol can interfere with the way your body metabolises folate, leading to a build-up of homocysteine. This can increase your risk of developing heart disease, stroke, and other severe health conditions. If you have an MTHFR gene mutation, it’s essential to avoid alcohol or drink it in moderation.

5. Get Enough Exercise

Exercising regularly is essential for everyone, and it’s necessary for people with an MTHFR gene mutation. Exercise can help improve your overall health and reduce your risk of developing complications. It’s best to choose exercises that you enjoy so you’re more likely to stick with them.

As with any new exercise routine, be sure to start slowly and gradually increase your intensity. And, as always, be sure to check with your doctor before starting any new exercise program.

6. Manage Your Stress Levels

Stress can harm your health, and it’s essential to manage your stress levels if you have an MTHFR gene mutation. Stress can contribute to a build-up of homocysteine, increasing your risk of developing heart disease, stroke, and other severe health conditions.

There are many different ways to manage stress, and what works for one person may not work for another. Some good options include yoga, meditation, deep breathing exercises, and journaling.

7. Stay Away From Tobacco

If you smoke tobacco, it’s essential to quit. Smoking can increase your risk of developing complications from an MTHFR gene mutation. Tobacco contains substances like nicotine and carbon monoxide, which may interfere with the way your body metabolises folate.

8. Improve Detoxification

Reduced methylation contributes to poor detoxification, so you’ll want to support your body’s natural elimination pathways. Some things you can do to support detoxification include:

• Incorporate more fibre into your diet (aiming for 30-50 grams a day)

• Consume anti-inflammatory foods (think leafy greens and healthy fats)

• Remove refined sugar from your diet

• Move and work up a sweat regularly - consider including regular sauna treatments

• Take Epsom salt baths.

• Keep your bowels moving and stay well hydrated to utilise your body’s primary detox mechanisms.

• Avoid exposure to chemical house cleaners. They can inhibit methylation and act as endocrine disruptors in the body among other things.

Get Support To Solve Your Fertility Issues

Now you know a little more about MTHFR gene mutation, why methyl folate is important, diagnosis and testing, signs and symptoms, treatment, and natural ways of managing it. This is one part of your fertility puzzle.

Whether you have the MTHFR mutation or not, get in touch if you want to get to the root of your fertility issues. We can support you with customised tests, supplements, and a plan to optimise your fertility. We give you the exact steps that you need to get your body baby-ready.

We have helped many couples to get pregnant and would love to help you too. Apply for a Fertility Analysis session now to see if we can help you.