Essential Information About MTHFR Gene Mutation


An individual either young or adult needs to make sure that his brain functions normally so that he can enjoy his life to the fullest. When we look at the physical appearance of a person, everything seems to be perfect but we cannot read his mind so we check on his behavior and when changes are noticed, something might be wrong. Even someone with depression or anxiety will lead to a serious problem when ignored so you better consult an expert for MTHFR gene mutation tests to learn more about this condition.

You may be suffering from this already and you are not even aware so it would a good idea to seek professional help for a consultation to minimize the symptoms. Some people may think that this is nothing to worry about but the risk of acquiring these from your parents without knowing the details about it might lead to uncontrollable situations. I can see no reason why MTHFR gene testing is ignored because such mutations of the genes may greatly affect our health, especially the blood and other functions.

Keep in mind that some of these conditions are rare that’s why we may experience various abnormalities or malfunctions in our body system. We are not even aware that changes in our moods and behavior are already signs that this gene started mutating so without a doctor’s diagnosis, can never understand what is happening. You may have heard already what this condition is all about so you should be encouraging your family and friends to be aware of this.

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Methylenetetrahydrofolate reductase is simply a mutation of a common gene and is starting to be popular nowadays because this will cause the homocysteine level which is usually in your blood, to go high. It also leads to a decrease in the levels of vitamins and folate.

Its primary function is to give instructions for the body to create a protein that is in charge of producing folate, creating DNA, and processing amino acids. In other words, this enzyme plays a significant role in our body system – go to for further reading. But due to mutations, some people were already reported to experience various health issues which is why awareness and testing must be conducted.


When mutation happens, variants occur through DNAs so you may have heterozygous or one variant which is a low risk. When you have homozygous, it means you got two variants and this condition leads to more or higher risks. Since mutations are inherited, they could be from your father, mother, or both.

One of the variants is called C677T which is common in the United States and about 15% of the Caucasians are of high risk. The other variant studied is called A1298C and is found in Europe, Australia, and North America. Depending on your parent’s genes and origin, you may acquire any or both of these variants.

What’s worrying here is when you inherited 2 variants. This will lead to a high level of amino acid or homocysteine. Because of this, various functions of your body system will be affected.


Research regarding these mutations is still going on because scientists and medical experts have a lot more to discover about the variants. However, some are claiming that various health issues are associated with this. So if you have conditions, such as anxiety, depression, bipolar disorder, nerve pain, acute leukemia, colon cancer, thromboembolic, and cardiovascular diseases to name a few, then you might have carried mutations – check this out for more details.

That’s why it is important to seek an expert’s advice and if we have inherited them, testing is necessary to find out about the variant. In my opinion, we have to be aware of our condition and status of mutation because we have to take care of our health. Sometimes it does not matter where we inherited this if our parents were not tested because what we should be focusing is on how to prevent this from getting serious.


I supposed the very first thing that your doctor will do is to go over your medical record because your history may tell something important. He needs to know the symptoms and perform a physical as well as laboratory examination for further analysis. For your homocysteine levels, he might ask you for a blood sample to be examined.

Gene testing may be performed as well to identify the variant because this could be a risk to the cardiovascular system. However, the mutation is not always a risk for health issues, such as heart diseases. But we can’t be too lax about this when we have other health concerns, too.

What we must do now is to visit our physicians regularly, take the right dosage of prescribed medicines, exercise every day, eat nutritious foods, and be cautious of our diet. In this way, we can reduce the risks of the symptoms that we are experiencing so what we can do best is to prevent these symptoms from getting serious.

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