doctor holding test tubes

Genetic mutations are far more common than you may have possibly thought, and while some are more or less harmless, others can be very damaging and harmful to our bodies. This page will tell you about MTHFR mutation, or methylenetetrahydrofolate reductase mutation, and explain three symptoms associated with it.

MTHFR is a mutation that leads to an elevation or imbalance in homocysteine and folate levels in the body. Homocysteine is an amino acid that helps to maintain the body’s cells healthily, while folate is a B-vitamin that creates blood cells in bone marrow, converts carbs to energy, and produces RNA and DNA. Both of these are very important and crucial to a healthy and properly functioning body.

Here you will find three symptoms associated with an MTHFR mutation, and how they are treated. Read on…

Methylenetetrahydrofolate Reductase

MTHFR, or methylenetetrahydrofolate reductase, as aforementioned, is an enzyme that breaks down homocysteine and folate. When mutated, MTHFR cannot function properly, and in turn, homocysteine levels and folate levels may rise or become unbalanced. When functioning properly, the methylenetetrahydrofolate reductase gene comes from your parents; you inherit one from each as your body develops in your mother’s womb. Because it comes in a pair, it can mutate in two different ways; the mutation can affect one gene, which is known as a heterozygous mutation, or it can affect both, a homozygous mutation. There are two other mutations possible, the C677T mutation and the A1298C mutation.


MTHR mutations are not particularly uncommon, and approximately between thirty and forty percent of the North American population may have a variant of the mutation. Diagnosis can be achieved by visiting your doctor, who will check you for symptoms, perform a check on your medical history, a physical exam, and a blood test to check your homocysteine levels.


As is a common trait of genetic mutations, the body is unable to perform basic functions; the symptoms associated with an MTHFR mutation are plentiful and are similar to those of other genetic mutations. The symptoms vary so widely, in fact, that genetic testing and blood samples are absolutely essential, and nothing can be diagnosed simply by way of symptoms, and in fact, symptoms are diagnosed based on a combination of your symptoms and blood results – until your blood results return, no definitive answer can be made. Here are three common symptoms associated with the mutation that may help a doctor recognize the condition:

  • Digestive issues – Digestive issues are very common with MTHFR mutations and are one of the most frequently found symptoms in all patients who suffer from variants of the mutation.
  • Migraines – Migraines, similarly to digestive issues, are other symptoms oft-associated with the mutation, and one that again, can be found in most people who suffer from a variant of the mutation.
  • Mental health problems – Mental health problems, such as anxiety and depression are also widely attributed to the mutation. If you suffer from a combination of all of these symptoms, it may well be worth visiting a doctor and asking them to check you out.

Although, as mentioned previously, because the MTHFR mutation has no symptoms that are definitively associated with them, doctors rely elsewhere for confirmation.


Having an MTHFR mutation does not necessarily mean treatment is absolutely necessary. Oftentimes, dietary and lifestyle changes are enough to suffice and offset nutritional deficiencies that come as a result of the mutation. Consume more B-vitamins, exercise, and lead a healthier lifestyle. You can also take supplements to offset any negative symptoms. The healthcare providers from explain that taking supplements can restore your cellular vitality and give you a better quality of life. Supplements should definitely be tried by anyone experiencing an MTHFR mutation, or negative symptoms thereof.

Associated Conditions

Because the MTHFR mutation and its variants alter the body’s ability to process some amino acids and B-vitamins, there are a number of conditions that can be caused and are associated with the mutation. These conditions are:

  • Cardiovascular diseases – Cardiovascular diseases such as blood clots, heart disease, and coronary artery disease.
  • Thrombophilia – Thrombophilia is an abnormality of blood coagulation that increases your risk of thrombosis (blood clots).

Living With MTHFR

MTHFR affects everybody who suffers from it differently, so it is hard to say that you can live a long, healthy life, as you may suffer from conditions that make that impossible. On the whole, however, leading a healthy life filled with exercise, proper sleep, and good diet, should offset any negative symptoms. It also allows you to lead a long healthy life.

Now, with the help of this page, you know three symptoms associated with MTHFR mutations, and how you can lead a healthy and happy lifestyle. MTHFR is by no stretch of the imagination a death sentence and can often be managed quite well. Live happily, live healthily, and live well.


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