Some seriously ill people while showing certain symptoms do not know the ailment being suffered. This is a valid reason why people go to the hospital to see medical practitioners and undergo tests. The tests are usually conducted for proper diagnosis and evaluation. Genetic disorders and diseases may be discovered in the genes of people due to certain changes in their DNA. 

There are numerous genes found in an individual’s DNA. Your gene is simply the basic unit of biological inheritance from your mother and father. The Methylene Tetrahydrofolate Reductase is an enzyme present in the MTHFR gene of the human body system. This enzyme is involved in the production of folate, a vitamin needed for the proper functioning of the body. Understanding how to test for MTHFR gene mutation may be complicated for the average person. This is because the study of genes is not something to be grasped in a day. 

Just as changes in the human body occur, mutations can be found in the sequence of genes. Scholars and geneticists have conducted research on how some variants which are not natural effect the gene. In the various researches conducted, mutation can be referred to as alterations in the DNA, caused by many factors. 

Our focus, however, is not on the broad overview of genes and their types but on the test used to detect changes in the MTHFR gene. This article will highlight the basic information you need to know about the gene mutation test.

MTHFR Gene Mutation

Some disorders and deficiencies are associated with the alteration in the genes that make up human DNA. Certain genes in our DNA play important roles in the day-to-day functioning of the body system.

Methylene Tetrahydrofolate Reductase is one of those genes and every living human has two of them. This is because you inherit one from your father and one from your mother. The importance of the Methylene Tetrahydrofolate Reductase cannot be overemphasized. It is responsible for the breaking down of a particular amino acid called homocysteine. 

Homocysteine has been identified by scientists as a kind of amino acid that enables the body the production of proteins. Generally, mutations cause damage to the DNA. Check this article to get more details on mutations.

Just as one human kidney can develop problems and affect the body, alterations may occur in either of the MTHFR genes. It can cause the following disorders:

Heart Disease

Once there is a default, there is a chance that the body may experience high blood pressure, heart diseases, and clots in the blood. 

Neural Tube Defect

As mentioned earlier, the DNA produces folate with the help of the MTHFR. Folate plays a role in the prevention of tube defects in the neural system. With alteration in the gene responsible for the production of folate, there is a high chance of the body producing little folate or none at all.

This enzyme deficiency may cause a severe genetic disorder called homocystinuria, which affects the gait and causes other psychiatric defects.

Mental Illness And Disorder

Research has discovered that this mutation may cause depression, anxiety, and tension in an individual. The cause(s) of some psychiatric defects have been linked to the alteration in the MTHFR gene. 

Advantages of the MTHFR Gene Mutation Test

Genetic testing usually provides important information used for the diagnosis, treatment, and prevention of diseases and disorders. Testing for gene mutation involves the utilization of different approaches, including the examination of the individual’s DNA.

The following are the benefits of conducting an MTHFR gene test:

Discovery Of The Type Of Mutation

There are various types of changes in the Methylene Tetrahydrofolate Reductase of the DNA. The test would detect the type; this would also determine the treatment to contain it.

Most people feel anxious and consider the financial cost of the tests. However, the results of the test can be positive. That is, confirm the presence of the mutation in the gene. It can also be negative, that is, rule out suspected alteration in the MTHFR gene.  

The confirmation of the alteration serves as a determinant of the chances of survival for the individual. The disorders caused by the mutation in the basic unit that plays a vital role in cellular health are usually hard to tackle. But with the right treatment, it is easy to contain the alteration.

Treatment For People With Confirmed Mutation Presence

Remember that the alteration in the Methylene Tetrahydrofolate Reductase gene limits the abilities of people affected by it. Some of them face depression as they find it hard to adapt to their new condition.  There are two treatments/medications available for medical practitioners to administer to such patients. Patients can either choose L-methylfolate oral supplement or folic acid. 

Click here to read more on the treatment of the disorders caused by the alteration.


There are a lot of genes that can be found in your DNA. Most times, you have no idea of the cause of the symptoms that you experience. If confused about the steps to take, do well to consult a medical practitioner for diagnosis!