Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis


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Changes in the methylenetetrahydrofolate reductase gene can lead to certain health conditions. One of them is hyperhomocysteinemia (high blood levels of homocysteine) which is a risk factor for cerebrovascular disease, cerebral vein thrombosis, coronary artery disease, myocardial infarction, and venous thrombosis. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.

Methylenetetrahydrofolate is probably one of the longest words you've read lately. This is a valid word and it describes a special gene in human DNA. This gene got a lot of attention in the last decade as it might be the cause of various serious health problems.

Bad genetic mutations cause most types of cancers

An MTHFR test is used to determine your levels of methylenetetrahydrofolate. Having abnormal levels of this enzyme might predispose you to certain ailments. Keep reading and learn everything you need to know about methylenetetrahydrofolate reductase.

The MTHFR Test and MTHFR Mutations

Genes in the humcreate various enzymes, amino acids, and other life-building blocks, amino acids, and other building blocks of life. However, genes are not static. They suffer mutations from time to time. Some of these mutations can be bad and cause health problems.

Most types of cancers are caused by bad genetic mutations. The MTHFR gene can also undergo certain mutations, so you might want to test for it. Although there is a lot to learn about MTHFR variants or mutations, scientists have managed to identify a few of them.

Let's take a look at these mutations.

  • A1298C - a study was done in 2004 on approximately 120 Irish patients. Almost half of them had this mutation confirmed in their DNA
  • C667T - this mutation is present in almost 40% of the American population. It is believed that a quarter of the Hispanic people living in the US also has this MTHFR variant

Remember that you inherit genes from your parents at birth, so chances are that you might also have an MTHFR mutation and don't even know about it. That's why it's recommended to test for it and see if you're at risk for health complications later in life.

Conditions Commonly Associated with MTHFR

More studies and research are needed to fully understand how MTHFR works and how it can affect the bodies of various patients. With that being said, various MTHFR mutations have been associated with the following health conditions:

  • Cardiovascular diseases including heart attacks, blood clots, embolisms, and other
  • Severe depression and anxiety
  • Excessive fatigue, even after a good night's sleep
  • Chronic pain
  • Migraines and bipolar disorders
  • Frequent miscarriages or pregnancies with defects

In most cases, having high levels of MTHFR means that your body is also producing too much homocysteine. Doctors usually order an MTHFR test to discover the cause of your elevated homocysteine levels.

The Link Between MTHFR and Homocysteine

Homocysteine is an amino acid made by your body as a result of breaking down proteins. As you probably already know, amino acids are the building blocks of proteins. At the same time, the human body can also break down proteins to reuse their constituent amino acids for other purposes.

People who have high levels of MTHFR also have high levels of homocysteine. This is usually caused by a deficiency in vitamin B12 or vitamin B9 (folate). Having abnormal homocysteine levels for a long period of time can lead to severe complications.

Some of these complications include heart attacks, osteoporosis, dementia, Alzheimer's disease, and more. Luckily, your body shows symptoms when you have too much homocysteine in your blood such as fatigue, mouth sores, mood changes, dizziness, and others.

Treating your vitamin B9 and B12 deficiencies is usually the right treatment for high homocysteine levels. In turn, your MTHFR levels should also return to normal after a while. However, it's important to have this process monitored by your primary healthcare provider to avoid unpleasant complications.

Also, your homocysteine levels might be high because of other underlying conditions. For example, thyroid problems, as well as kidney disease, might cause your body to produce too much homocysteine. Testing your MTHFR might help you detect unknown health issues that are affecting your life.

Who Should Do an MTHFR Test?

As mentioned earlier, your doctor might order an MTHFR blood test in case you have high homocysteine levels. However, you can also test for it using a direct-to-consumer blood test. The procedure is quick and the results will come back in just a few business days.

At the same time, having a close relative diagnosed with an MTHFR mutation also qualifies you for an MTHFR test. There are more than 40 MTHFR mutations discovered by scientists and each of them can affect a patient in a unique way.

Another category of people who should do the MTHFR test is those who have a history of heart or blood vessel diseases. Too much homocysteine in the blood can cause clots, hypertension, and other cardiovascular ailments.

Finally, newborns should also get an MTHFR test to check for different vitamin deficiencies or health abnormalities. This is usually done as part of a more complex test panel to prevent serious complications later in life.

Adults test their MTHFR levels by drawing a blood sample from their veins. In the case of newborns, doctors gently prick the heel of the newborn and sample a few blood drops. This sample will be analyzed to determine if the MTHFR levels are high or not.

How Does the MTHFR Test Work?

An MTHFR blood test is easy to do. You just have to order the methylenetetrahydrofolate reductase test from Discunted Labs, draw a blood sample at a nearby Quest Diagnostics location, and get the results back in a few business days.

There are no special precautions to be taken before doing the test. You don't need to fast or avoid taking supplements. Based on the results, your doctor might ask for additional tests to determine why your homocysteine levels are high.

Order Your MTHFR Test Today!

Remember that having an MTHFR mutation can put you at risk for cardiovascular diseases, depression, anxiety, and other complications. It's safer to do the test and see if you're at risk or not. Go to and order the MTHFR test today!



What You Need to Know About the MTHFR Gene

High Homocysteine and Its Symptoms

MTHFR Mutations and How to Test For It





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