Should You Be Worried About MTHFR Gene Mutation?

Updated on October 7, 2021

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As someone who is not specializing in healthcare, the term MTHFR Gene Mutation might sound scary for you. You are wondering what kind of disease it is, what causes it, and what can treat it. So far, we have no definite, 100% certain answers for any of those questions. However, studies are being made each day, such as this study (check it out) about the gene mutation having something to do with race (Irish). However, this is but one of the very few studies, meaning all of us should wait for definite news from credible government sources.

Still, with scant information, we can go forward and paint a picture of this disease. We will start with defining what MTHFR Gene Mutation is, what its cardinal signs and symptoms are, and what possible treatments are available as of this time. Read on to learn all of these and more in this article.

What Is MTHFR Gene Mutation?

The acronym MTHFR stands for methylenetetrahydrofolate reductase, an enzyme capable and important enough to break down homocysteine. Homocysteine (link: is an amino acid tasked to maintain the welfare of the cells around the body. It is broken down into more useful compounds for the body and having a high level of folate and homocysteine in the body is a hallmark sign of the gene mutation. It can mean you are also vitamin deficient, or you are already developing heart disease.

Folate is another compound broken down by methylenetetrahydrofolate reductase. It is a B vitamin tasked to create red and white blood cells in the body, as well as support the pregnant mother in her pregnancy by making sure neural tube defects are far from happening to the fetus. To add, folate is important in converting carbohydrates into energy and producing RNA and DNA. 

In simpler terms, a question is posed like what are MTHFR gene mutations, and then with a follow-up question, “Is it contagious?” To briefly put it, MTHFR gene mutation is a deficiency in a specific enzyme that is tasked to break down a lot of important compounds. This, in turn, surges the number of compounds needed to be broken down, thus creating problems for the body. And no, it is not contagious in the slightest, but you can pass it down if you have the gene.

What Are the Causes?

There are no tangible causes of this mutation other than that is just how the DNA is structured. With this predisposing factor, you are helpless to cure it but not so helpless in trying to prevent it if you are thinking of conceiving. 

However, it is in your best interest to take a family history test or make sure you’re keeping track of all the DNA-related diseases your family has. This can be helpful in the decision-making when deciding to start a family, and if ever you go through with it, it is easier to monitor your folate when the professionals are aware. 

About Homocystinuria

Homocystinuria is a genetic deficiency where folate is not processed by the body. Though it is a problem in the DNA, it does not show any physical alteration to a newborn. Therefore, it might be difficult to diagnose, especially if one or more parents with the gene are also misdiagnosed. It is possible to see the deficiency via NBS (newborn screening), so treatment can be done as soon as possible. However, if undetected and untreated, obvious symptoms start to appear by early childhood due to severe homocystinuria.

The symptoms can be some or all below: 

  • Problems in clotting
  • The child did not thrive
  • Developmental gap
  • Intellectual delay
  • Seizures
  • The smaller body and head size
  • Behavior problems and mental illnesses
  • Shorter life expectancy

In an adult suffering from methylenetetrahydrofolate reductase gene mutation, these other symptoms might have been exacerbated, creating more problems to the already pre-existing ones. Most of the devastating symptoms affect the patient mentally and psychologically, though the physical consequences are just as problematic. They are as follows below: 

  • Problems with the cardiovascular and thromboembolic systems 
  • Depression and Anxiety
  • Schizophrenia
  • Long-term weakness and fatigue
  • Chronic migraines
  • Miscarriages
  • Full-term pregnancies but having neural tube defects
  • Leukemia
  • Colon Cancer

How To Test and Determine MTHFR Gene Mutation?

There is no actual testing for this gene mutation unless a mother is showing signs of high homocysteine. That would be the only scenario an MTHFR Gene Mutation will be suspected unless the patient undergoes annual religious testing. And even during that time, many factors can pull up a false negative result. There are some home test kits, but before considering those, talk to your doctor about them.

Possible Treatment

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There are no solid treatments available as of today except the usual. Lifestyle modifications including a healthy diet filled with B vitamins, avoiding vices, and keeping fit might be the most common advice you will get from a professional. You can also add Vitamin B supplements to your diet. Other than medications that address the diseases that stemmed from MTHFR Gene Mutation, there is scarcely anything you can do. 

So, Should You Be Worried?

MTHFR Gene Mutation, in our article’s opinion, should be taken seriously, just like any other disease. Though it is harmless, especially since it has not directly taken any lives, it can still pose a risk and a problem against newborns and infants. Its side-effects can be devastating if both parents have been misdiagnosed or if NBS is unavailable and the surge of folate cannot be tracked or noticed. Our conclusion is MTHFR Gene Mutation should be considered as one of the many risks when trying to conceive and should be added to the family history. 

The Editorial Team at Healthcare Business Today is made up of skilled healthcare writers and experts, led by our managing editor, Daniel Casciato, who has over 25 years of experience in healthcare writing. Since 1998, we have produced compelling and informative content for numerous publications, establishing ourselves as a trusted resource for health and wellness information. We offer readers access to fresh health, medicine, science, and technology developments and the latest in patient news, emphasizing how these developments affect our lives.