Having two copies of the MTHFR gene mutation may raise your risk for certain health conditions, though more research is needed. You may have the mutation and not find out unless you undergo genetic testing or have a health issue.
The abbreviation MTHFR refers to a relatively common genetic mutation. It stands for methylenetetrahydrofolate reductase, and having this mutation may lead to high levels of homocysteine in the blood and low levels of folate and other vitamins. Its main function is to provide your body with instructions for creating the MTHFR protein, which helps your body produce folate. This B vitamin is necessary to create DNA. There’s been concern that certain health issues are associated with MTHFR mutations, so testing has become more mainstream over the years.
The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, which helps your body make DNA. You have two copies of the MTHFR gene — one from your mother and one from your father. These genes tell your body how to make the MTHFR protein, which you need to produce folate, a B vitamin. Folate is required to break down homocysteine, an amino acid. If you have an MTHFR gene mutation, your body may not break down folate as well as it should. This leads to increased levels of homocysteine, which potentially could cause health problems.
You can have either one or two mutations — or neither — on the MTHFR gene. These mutations are often called variants. A variant is a part of a gene’s DNA that’s commonly different or varies from person to person.
Having one variant (heterozygous) is less likely to contribute to health issues. Some experts believe that having two mutations (homozygous) may lead to more serious problems.
There are two variants, or forms, of mutations that can occur on the MTHFR gene. The specific variants are:
- C677T: About of subjects in a 2020 study were found to have a mutation at gene position C677T.
- A1298C: Limited research exists regarding this variant, which was found in about 40% of the subjects.
It’s also possible to acquire both C677T and A1298C mutations, which is one copy of each.
Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a homozygous mutation is higher.
However, in cases where a person holds two copies of the C677T mutation or one copy of each mutation, they may be at risk of high homocysteine (an amino acid) levels, which may affect the body’s function.
Health conditions linked to MTHFR depend on your type of mutation and how many copies you contain.
If you have only one copy of the C677T or A1298C mutation or two copies of the A1298C mutation, there are typically no health conditions or risks linked.
Conditions that may be associated with MTHFR include:
homocystinuria
hearing loss in older age
alopecia areata
anencephaly
spina bifida
high blood pressure
blood clots
recurrent miscarriages
psychiatric disorders such as depression or bipolar disorder
certain cancers
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A person with two gene variants or who is homozygous for the MTHFR mutation may have an increased chance of health conditions.
Eating foods rich in folate may help naturally support your levels of this important vitamin. However, supplementation may still be necessary.
People with known MTHFR mutations should discuss their nutrition plan in detail, along with any potential supplementation or medical treatments, with a healthcare professional.
People with MTHFR mutations may want to avoid foods that contain the synthetic form of folate, folic acid — though it’s unclear whether that’s necessary or beneficial.
Be sure to check labels, as this vitamin is added to many enriched grains, like pasta, cereals, breads, and commercially produced flours.
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Compiled by Johann Pretorius
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