What You Need To Know About MTHFR! All About Genetic Mutation


August 16th, 2019   |   Updated on June 5th, 2020

MTHFR represents methylenetetrahydrofolate reductase and it is closely associated with genetic mutation. This mutation can result in increased homocysteine blood levels and reduced vitamin content in the body.

Homocysteine is released when the body breaks down protein. Excessive homocysteine content in the body can damage the arteries and prompt blood clotting. This condition arises from folate deficiency in the body.

1. Is Genetic Mutation Hereditary?

In other cases, genetic mutations are hereditary. Therefore, you are likely to get MTHFR mutations passed on to you from your parents. We all receive a copy of MTHFR gene from each of our parents. When such pairs of MTHFR genes are mutated, then the chances of a homozygous mutation get higher.

Gene mutations are hereditary. You can acquire it from either of your parents. At the time of conception, you get one replica of the MTHFR gene from your parents. If both of them have mutations, the risk is much higher that you’ll get a homozygous mutation.

2. Variants Of MTHFR Mutation

Now, there are several variants of MTHFR mutation. Only two variants of mutations can occur on a MTHFR gene. Single MTHFR variant are not dangerous. Danger comes in when there is double mutation. The two common MTHFR variants are the C677T and the A1298C.

The C677T is more common among the two. More than 30% of Americans have genetic mutation at the C677T position. It is interesting that of this cluster of Americans; more than 20% of them have Hispanic ancestry. Another 12% of this is Caucasians with homozygous C677T mutation.

Homozygous mutation at position A1298C occurs in more than 15% of Americans. Note that you can also have a copy each of the A1298C and C677T genetic mutations. You can diagnose this condition with a good MTHFR test kit.

3. How Do You Tell The Symptoms?

blood clots

MTHFR symptoms differ across individuals. While new symptoms are being regularly discovered, the verified conditions that can be linked to the possible presence of MTHFR include thromboembolic disorders like stroke, blood clots and embolism.

Cardiovascular diseases are strong indicators of MTHFR mutations as well. Chronic depression and anxiety, schizophrenia, acute leukemia, colon cancer and bipolar disorder are other symptoms of MTHFR.

An online research on the symptoms of MTHFR would reveal a host of conditioned linked with MTHFR. Most of these (except the symptoms stated above) lack clinical evidence. In most cases, patients are barley aware of their MTHFR status until they have a test conducted.

4. How Do You Test For MTHFR Mutations?

There are a variety of MTHFR test kits that allow you easily do a self-diagnosis. Reputable gynecologists and the American College of Obstetricians only recommend that you test for MTHFR when you notice symptoms of high homocysteine levels.

Symptoms of high homocysteine levels include diabetes, inactivity and hypothyroidism. You can also get a clinical examination where blood tests can be carried out in a lab. Let us state here that if you adopt laboratory examinations (as opposed to at-home diagnosis using test kits), your insurance cover may not cover such expenses.

If found to have MTHFR mutation, it doesn’t call for rigorous medical therapy. This condition can be improved by increasing your folate intake. You can take Vitamin B supplements.

Health Disclaimer :

Information provided by does in no way substitute for qualified medical opinion. Any text, videos or any other material provided by us should be considered as generic information only. Any health related information may vary from person to person, hence we advice you to consult specialists for more information.