Facts to Know about MTHFR Gene Mutation

MTHFR Gene Mutation

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Last Updated on May 9, 2024 by Steal the Style

Suppose you are pregnant or planning to have a baby soon. In that case, you are probably trying to get as much information as possible and thus reduce the uncertainty that awaits you in this new period of life. So it’s almost inevitable that you don’t read something about prenatal screenings and tests done to maintain a healthy pregnancy.

See this website to learn about the importance of prenatal screening.

MTHFR screenings are performed in pregnant women with a history of miscarriages or who have already been diagnosed with this mutation. This gene modification is not a disease but a ‘mistake’ in the genetic code. It usually appears in two forms, C677T and A1298C.

You may pass on the genetic code error to your kids if both you and your partner have this mutation. A chance exists even if one parent is diagnosed with MTHFR. If the newborns have two copies of C677T, they might develop certain conditions. A1298C copies or mixed C677T and A1298C possess no health risks. Still, it’s better to be safe than sorry.

In Short about MTHFR

A gene labeled MTHFR produces an enzyme of the same name. This enzyme is vital for balancing folic acid levels. These acids make folates, responsible for maintaining a healthy pregnancy and strong fetus.

If the gene is ‘damaged,’ i.e., mutated, and the enzyme is produced to a greater or lesser extent, accelerated folate degradation and elevated homocysteine ​​levels occur. The consequences can be miscarriages, preeclampsia, and neural defects of the fetus. This mutation is also linked with a variety of other conditions.


The symptoms of this gene mutation depend on the type of mutation. The most common symptom is an elevated homocysteine level. That’s due to the faulty functioning of the enzyme. Its high levels may be associated with neural tube defects in newborns. Babies whose parents have some MTHFR variants are at increased risk for this defect.

Other conditions caused by the gene MTHFR mutation include fatigue, brittle nails, and a higher chance of having an autoimmune disease. Again, timely testing can detect genetic issues and help your physician prescribe proper treatments. But, despite some difficulties it brings, this condition is generally harmless.

MTHFR and Mental Health

The MTHFR gene mutation can trigger mental health diseases like depression, anxiety, or bipolar disorders. The protein that this gene produces is essential for building methylates (a usable form of folates). The body needs them to create neurotransmitters. Their function is critical for brain health. 

Faulty neurotransmitter levels can increase the risk of developing mental issues. People with the MTHFR gene mutation may experience brain fog, growth problems, or even weakness. The effects of the methylation cycle on mental health may also be affected by dietary changes and environmental factors.

Conceiving Difficulties

In order for women to get pregnant and reproduce, they must be able to process folate properly. MTHFR is an enzyme that breaks down folate and homocysteine. This enzyme is necessary for reproduction, digestion, and brain development, but it’s useless when mutated.

Suppose the MTHFR gene mutation is present in both parents. In that case, that can lead to elevated homocysteine levels and unbalanced folate amounts. These issues may make it difficult for you to conceive. So, if you are experiencing these, you should seek medical advice. And if you or your partner has this genetic mutation, genetic screening is recommended.

Help Yourself

Pharmacies offer at-home test kits that can include MTHFR. Still, if you suspect this condition, it’s important to have a professional diagnosis. Your doctor will assess your genetic makeup and recommend a course of treatment. On this source, find out more about methods used to detect this condition.

The exact symptoms of this mutation vary from person to person. The specific variant of the gene determines these symptoms. In some cases, you can put this condition under control with simple lifestyle and dietary changes. Only severe cases and patients with conceiving difficulties might need medications.

The results of the MTHFR screenings will affect your medical treatment. Yet, dietary changes can help you offset any nutritional deficiency. For example, the intake of green vegetables, folic acid, and vitamin B-fortified foods may help lower homocysteine levels. You can also take B9 or B12 supplements to compensate for the lack of these nutrients.

Limit alcohol intake, as it interferes with folate absorption. Alcohol can also cause the body to build up homocysteine. This compound increases your risk of heart disease and stroke. Regular exercising can also improve your health and reduce the complications caused by MTHFR mutation.

If you think you may have an MTHFR gene mutation, getting a proper diagnosis and treatment is essential. A faulty enzyme could affect B vitamins’ functions, causing deficiency and toxicity. So your doctor can run a test to check enzyme levels, thus treating or preventing many health issues.