MTHFR Deficiency, Are You and Risk?

MTHFR deficiency can play a significant role in your health. In fact, many of the most common symptoms and diseases that individuals experience are often greatly influenced by a MTHFR deficiency. However, a MTHFR deficiency is a bit of an inaccurate statement. So I would like to start off by explaining what an MTHFR deficiency actually means.

MTHFR Deficiency Explained

A MTHFR deficiency is not really a deficiency at all. A deficiency implies that there is an inadequate availability of something, for example a vitamin deficiency. If you have a vitamin deficiency there is not enough of that vitamin to make your body function efficiently. But when it comes to MTHFR, it is not a matter of whether or not it is present in sufficient quantities. MTHFR is always going to be present in the body. The real question is if MTHFR is working for you. As an enzyme, MTHFR is necessary for multiple bodily processes to be completed. Every human has genes that allow them to make MTHFR. The question is if your enzyme is efficient. Is it working for you at full capacity, or does your genetic makeup not allow MTHFR to work well? So rather than being a true deficiency, it is actually a genetic variation that causes the enzyme not to work efficiently. Yet for the sake of conversation here, I will stick with the term MTHFR deficiency.

The Role of a MTHFR Deficiency

In working with patients, I can certainly attest to the point that a MTHFR deficiency plays a role in preventing and managing many symptoms and diseases. As an enzyme, the main role of MTHFR is to convert inactive forms of folate over to the active form of folate that is simply known as 5-MTHF. (L-5 methyltetrahydrofolate) The importance of being able to do this is related to a bigger process known as methylation which is responsible for developing new tissues in the body, detoxification, gene replication, and reduction of the inflammatory substance homocysteine just to name a few. If you cannot get folate to its active form in sufficient amounts because of a MTHFR deficiency, then your methylation process is slower than what is considered ideal and reduction of the methylation process begins to take place. This is often noted as symptoms that can range from anxiety and depression to cardiovascular disease and cancer. Clearly the impact of a MTHFR deficiency can be far reaching in its effects.

Know Your MTHFR Deficiency

Do you have a MTHFR deficiency? Answering this question is not difficult. A simple blood or saliva test can often provide this information. While there are between 40-50 genes that often are responsible for the production of MTHFR, the two genes that seem to have the most impact are labeled as 677 and 1298. If you are wondering why the number is between 40 and 50 and not a consistent number, the answer is that not all genes are present for all people. Some individuals don’t have some genes as part of their genome. However, 677 and 1298 appear to be consistently present which likely emphasizes their importance. Just as an example of the significance of these two, if you have a partial mutation at just 677, your enzyme is only working at 677. A full mutation at 677 takes you all the way down to 30%. Now that is an MTHFR deficiency that you want to know about.

One of the things that my patients like to hear when we test for a MTHFR deficiency is that it is a one-time test. Genes do not change. So once you have been tested for a MTHFR deficiency, you never have to be subjected to this again. That is great news if you are not a fan of blood tests. And if needles really spook you, no worries! This information can also be obtained non-invasively by saliva.

Should I care if I have a MTHFR Deficiency?

A MTHFR deficiency is important for you to know. Knowing how this enzyme is working for you may be the difference between you feeling your best and you feeling miserable on a daily basis. Does this seem dramatic? It should because for some people the effects of a MTHFR deficiency are dramatic. A MTHFR deficiency can make the effects of depression much worse. It can cause anxiety that makes you feel like you are crawling out of your skin. Not only that, if you have a family history of two of the most scary diseases, cancer and cardiovascular disease, a MTHFR deficiency may place you at greater risk of developing these diseases also. No one wants to be plagued with a stroke or be told that they have cancer.   Should you care? How could you not care if you have a MTHFR deficiency?

Correcting an MTHFR Deficiency

Given the significance of a MTHFR deficiency, you may be thinking that correcting this problem is extremely difficult and complicated. It can be depending on the influence of other genes and lifestyle factors. However, there are some things that I have found as a doctor that consistently work for many people. First, if you have a folate deficiency, which can also be referred to as a folic acid deficiency sometimes, you have to correct the deficiency of this nutrient. This is a true deficiency and not a state of inefficiency as we alluded to at the beginning of this article. The presence of a folate deficiency makes genetic variations of MTHFR, what we have been referring to as a MTHFR deficiency, even more pronounced. The easiest way to address this is by using an active form of folate that is complemented by the nutrients B12 and B6. As many of my patients will verify, having the right form of folate available with B12 and other critical nutrients can make a big difference in the way you feel on a daily basis.