Posted on November 25, 2021 at 3:40 pm

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What Is MTHFR Gene Mutation & How To Discover It?

The MTHFR gene has definitely been talked about quite a lot recently and there is no doubt in my mind that you have also heard about it and that you have, thus, become interested in learning more about what it is and what it is responsible for. One thing that has mostly been talked about is the MTHFR gene mutation and people are increasingly becoming rather curious about said mutation, which is probably what brought you here in the first place. If you love medicine in general, then you will absolutely love learning about this particular gene, its variants and the process of discovering those variants as well.

This article could help you get started with the learning process:

You probably have a few important questions when this particular topic is in question. Well, not I am going to try and answer them for you one at a time, following a certain logical sequence, so as to help you get a better understanding about everything and basically realize what this gene is responsible for, what happens when it mutates and how you can discover the mutation. So, let us start answering those questions one by one.

What Is MTHFR?

Methylenetetrahydrofolate reductase, or MTHFR, is actually an enzyme that is responsible for breaking down the amino acid homocysteine with the help of folate. If those sound like just a bunch of strange words, let me give you a clearer explanation. Basically, folate is one of those B-vitamins that are necessary when it comes to the production of red and white blood cells in your bone marrow. It also plays a part in the production of DNA and RNA.

Homocysteine, on the other hand, is an amino acid that works towards maintaining your body’s cells. Both of these are very important for people’s health and their daily functioning. If you need an even simpler explanation, the MTHFR gene actually converts folic acid, i.e. the vitamin B9, into the active form called 5-MTHF, which is the form that your body can properly use. 5-MTHF is responsible for synthesizing DNA and RNA, regulating genes, preventing elevated homocysteine, producing red blood cells, as well as essential neurotransmitters in your brain, and detoxifying certain heavy metal toxins such as copper, mercury etc.

What Is MTHFR Gene Mutation?

Now that you understand precisely what this gene is responsible for, you are probably curious as to what the actual mutation entails, which is thoroughly explained on this page. If you think about it carefully for a minute and use your logic, you will perhaps be able to guess precisely what the mutation means. In case you cannot quite put a finger on it, though, let me give you a quick explanation and thus help you clearly understand everything.

Basically, an MTHFR gene mutation may indicate that your body is unable to properly convert folic acid into the mentioned functioning form. As we have made it clear already, your organism has no use of folic acid unless it is converted to the functioning form that we have mentioned, which means that this mutation can actually lead to a number of health issues. Now, here’s an interesting fact that might blow your mind away. More than 50% of the entire population has a mutation in at least one of the MTHFR genes.

Since I have mentioned the phrase “at least one”, let me make that clear too. People can have up to two variants of this gene. It is generally believed that having two variants leads to much more serious health issues. You should also know that you inherit two copies of the MTHFR gene from your parents, which is why those multiple variants are even possible. I really hope that this clears things up for you.

What Can It Cause?

There is absolutely no point in talking about these mutations without actually helping you understand what they can cause. As previously explained, these variants can lead to multiple health issues and I believe it is clear by now that having two variants puts you at a higher risk than having only one of them. In any case, it is important for you to understand precisely what can be caused by these mutations, so that you can be on the lookout for signs.

Birth defects such as autism, Down syndrome and similar things can be a sign of MTHFR mutation. In addition to that, people with these variants are at a higher risk from developing Alzheimer’s and Parkinson’s at an older age. The mutation can also be the cause of certain coronary heart diseases, sluggish thyroid, hyperlipidemia, frequent miscarriages in women, as well as a number of psychiatric disorders, including depression.

How To Discover It?

It goes without saying that you now want to understand precisely how these mutations can be discovered. Well, you should know that there are various different MTHFR gene mutation tests that you can take in order to discover this issue. It is also worth mentioning that this can definitely go undiscovered for a number of years, simply because people fail to think about getting tested for this gene mutation. Of course, it’s up to your doctors to recommend the tests, but the truth is that you can also decide all alone that you want to do them if you start suspecting something.

The only thing you should be aware of is the fact that you should find a high quality test that will be completely accurate. So, in simple words, you might want to get recommendations from your doctor in order to actually decide which particular test to take. The good news is that there are a lot of great ones out there and that you will certainly manage to discover the mutation if you just find a good quality test and take it. Finally, you should also understand that these mutations in themselves do not require any medical treatment, but discovering them can help you treat some other health issues in a much more effective way.

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