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What is MTHFR?

At first glance, MTHFR seems like an incomprehensive string of letters that looks more like a curse word than a medical condition. However, in recent years, more people are learning more about this condition, and how it can affect our long-term health.

MTHFR stands for methylenetetrahydrofolate reductase, an increasingly common genetic mutation that affects a number of different processes throughout our body. There are two variants: C677T and A1298C. Evidence suggests that it affects demographic groups differently, with current estimates showing that C677T affects 25% of the American Hispanic population, but only 10-15% of Caucasian Americans.

So, what is MTHFR, and how does it affect our health? Read on to find out more about this common genetic mutation, and what you should do to make sure it doesn’t affect you or your family.

What is MTHFR?

Methylenetetrahydrofolate reductase, or MTHFR, is a gene that every person carries within their genetic material. Each person carries two copies of this gene – one from each parent.

The majority of individuals who are not affected by this mutation have two healthy MTHFR genes. Individuals who have a mutation can either have it in one of their MTHFR genes or both.

When you only have one mutation, or variant, you’re less likely to be affected than individuals who have two MTHFR gene mutations. Having one variant is referred to as being heterozygous, while two variants are called homozygous.

Common MTHFR Gene Mutations

In the last several years, there has been an increase in specific research conducted on different types of MTHFR gene mutations, and how they can affect our health. In that time, scientists and researchers have isolated two common ways that our MTHFR genes can mutate.


A mutation at the position C677T is so common that anywhere from 30-40% of the American population is affected by it. If you only have one C677T mutation (remember, it’s called being heterozygous), it’s unlikely that your health will be affected. However, women with two C677T mutations may find themselves at a higher risk of giving birth to a child with neural tube defects.


Another MTHFR gene mutation that’s been discovered but not researched as extensively is the A1298C mutation. It’s possible for an individual to have one C677T mutation and one A1298C mutation simultaneously.

So far, the studies that have been done on the A1298C mutation alone have been isolated by ethnic groups, so it’s difficult to conclude how it affects the general population as a whole.

What Does the MTHFR Gene Mutation Cause?

There are several ways that single or multiple MTHFR mutations can affect an individual. Generally, doctors believe that having two mutations (homozygous) puts an individual at greater risk for more serious health problems.

Whether you have one mutation or two, MTHFR affects your body’s ability to produce amino acids. This can lead to low levels of folate and other critical vitamins, and high levels of the amino acid homocysteine.

High levels of homocysteine, also called hyperhomocysteinemia or homocystinuria, can be potentially damaging to both adults and infants. Common symptoms of this condition include:

  • Weakness
  • Fatigue
  • Dizziness
  • Mouth Sores
  • Tongue Swelling
  • Mood Changes
  • Growth Problems  

Individuals can develop hyperhomocysteinemia from a MTHFR mutation, another medical condition like hypothyroidism or kidney disease, or from a simple deficiency in vitamin B-12 or folate. In addition to hyperhomocysteinemia, there are many other conditions associated with MTHFR mutations. They include:

  • Peripheral Neuropathy
  • Scoliosis
  • Cardiovascular Diseases
  • Depression and Anxiety
  • ADHD
  • Schizophrenia
  • Colon Cancer
  • Leukemia
  • Migraines

It’s important to keep in mind that research on the MTHFR gene mutation is still ongoing, so doctors aren’t able to say for certain how the MTHFR gene’s effect on amino acids contributes to any of these conditions.

Complications in Pregnancy

There’s a growing body of research to suggest that MTHFR mutations can potentially increase a woman’s risk of either miscarrying a pregnancy, or giving birth to a child with a neural tube defect. Neural tube defects are defined as any birth defect that affects the brain, spine, or spinal cord. Some common neonatal neural tube defects include anencephaly, spina bifida, or Chiari malformation. They are often fatal to the fetus.

Typically, these conditions affect the development of the fetus before the individual even knows that they are pregnant. This is why doctors recommend that women begin taking folic acid supplements before becoming pregnant.

Treatments for MTHFR Gene Mutations

Since there are several different types of MTHFR mutations that affect the body in unique ways, most doctors start treatment by ordering the patient to undergo genetic testing. This helps to identify any potential MTHFR mutations at play. They will also take a full medical history, and ask you to list any symptoms you may have.

Once they have taken your medical history and have received the results of your genetic testing, your doctor will use this information to determine the best possible treatment plan. If you don’t have any of the health conditions associated with this mutation, your doctor may suggest a few diet and lifestyle changes, while they monitor your health for any related conditions as time goes on.

MTHFR Treatment During Pregnancy

Pregnant women who show signs of a MTHFR mutation need to be very cautious, as the condition can lead to increased risks and complications in pregnancy. In addition to potential birth defects, studies have shown that some pregnant women with MTHFR mutations are more vulnerable to preeclampsia and blood clots.

Diet and Supplement Considerations for MTHFR Gene Mutations

One of the most common treatment options for MTHFR gene mutations are simple vitamin supplements, which can balance out the negative effects of high homocysteine levels. Some common supplements offered to individuals with MTHFR mutations include folic acid and vitamin B-12.

Your doctor may also suggest some different lifestyle and diet changes, which should help prevent the MTHFR mutation from affecting other aspects of your life. These often include:

  • Quitting smoking
  • Getting plenty of exercise
  • Following a healthy diet
  • Taking multivitamins, or any other specific vitamins that your doctor prescribes
  • Taking at least 400mcg of folic acid every day if you are pregnant, or plan to become pregnant

Does GenoPalate Test for MTHFR?

It’s not uncommon for an individual with a MTHFR mutation to be unaware that they have this genetic condition. Research on this mutation is still evolving, and it can be difficult to pinpoint whether your health has been affected unless you’ve undergone genetic testing.

At GenoPalate, we test for the C677T variant. We do not test for the A1298C variant because the current research for A1298C is limited. Not to mention, the little research that does exist shows that this variant does not have a significant impact on folate levels and heart health.

Purchasing a DNA Nutrition Test Kit from GenoPalate can tell you quickly and easily whether your health is being affected by the C677T variant of MTHFR. In addition to your genetic results, you’ll also receive a personalized nutrition analysis conducted by our experts, which will show you how to eat most effectively for your precise genetic profile.

Get started with our popular DNA Nutrition kit, so you can take control of your health and nutrition today.


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