Rare Diseases 101 Everything You Should Know About The MTHFR Mutation

MTHFR (Methylenetetrahydrofolate reductase) is an enzyme responsible for breaking down a type of amino acid called homocysteine.

Rare Diseases 101 MTHFR MutationRare Diseases 101: Everything You Should Know About The MTHFR Mutation

Probably a smile crossed your face when you first saw MTHFR, thinking it’s internet slang for a popular swear word. But there’s nothing to smile about if you or someone you know is suffering from diseases because of this rare mutation of MTHFR. 

To better understand its effects on the body, here’s a guide on everything you should know about the MTHFR mutation: 

What Is The MTHFR Mutation? 

MTHFR (Methylenetetrahydrofolate reductase) is an enzyme responsible for breaking down a type of amino acid called homocysteine. The gene responsible for programming such an enzyme is the MTHFR gene. Sometimes, however, this gene makes slight coding alterations that prevent the enzyme from functioning correctly or even totally deactivate it. 

MTHFR has become a buzzword in social media and many sites online. There are even some articles on medical sites that show the link between MTHFR gene mutation and depression or other mental health conditions. Some are even associating this mutation to pregnancy problems, heart conditions, and many other disorders. 

MTHFR Mutation Variants Of Concern

To better understand MTHFR mutations, think of COVID-19. The original SARS-COV-2 virus has mutated to countless variants. The same is true with this gene. There are many possible mutations, but most aren’t a cause for alarm because they don’t result in severe health problems. With COVID-19, the variants of concern are Alpha and Delta, which are highly infectious mutations, causing a third or fourth wave of COVID-19 infections in many parts of the world.

In the case of the MTHFR gene, each one has two copies of the gene. One comes from the mother, and the other one is from the father. As mentioned earlier, there are many MTHFR gene mutations, but the two variants of concern are the C677T and A1298C. If your gene mutation test shows that you have two copies of the C677T mutation, or one C677T plus one A1298C, you may have a higher risk of developing severe health problems. 

If you know how to take care of your life better, you can lower your risk for severe conditions related to MTHFR. You can do this by eating a healthy diet, exercising regularly, reducing stress, and, of course, getting regular checkups. 

Testing positive test for MTHFR gene mutations isn’t a death sentence. You can still have healthy life despite having such inherited gene problems.

MTHFR Mutation Indicators

Physical marks such as sacral dimples, sugar bugs, and stork bites aren’t indicators that you possess MTHFR variants of concern. So, if you or your children have dimples near the top of the buttock crease (sacral dimples), a visible blue vein on the nose (sugar bug), or pink or reddish birthmarks (stork bites), you shouldn’t worry.

MTHFR Mutation Indicators

Health experts also want to stress that there’s no scientific basis on theories floating online claiming that those with these physical traits are more likely to suffer severe side effects from getting COVID-19 vaccines.

As mentioned earlier, the MTHFR genes are responsible for the processing of the amino acid called homocysteine. However, the MTHFR gene variants of concern cause problems with your body’s ability to use such amino acids, making you more prone to developing a rare inherited disease called homocystinuria. Additionally, the increased level of unused homocysteine in your body could increase your risk of developing mental health problems, blood clots, and cardiovascular diseases.

Not everyone with MTHFR gene mutations develops symptoms. However, in rare cases where elevated homocysteine levels in the blood cause problems, there are signs concerning the underlying problem caused by the MTHFR mutation that the patient may experience. 

For example, if your baby suffers from homocystinuria, they may experience the following symptoms:

  • Developmental delays

  • Emotional and behavior problems

  • Learning disabilities

  • Abnormally shaped chest

  • Weak bones

  • Pale skin and hair

  • Seizures

  • Vision problems

Conditions Associated With MTHFR Mutation

Aside from homocystinuria and cardiovascular problems (heart attack, blood clots, embolism, and stroke), some other conditions from MTHFR mutations could include the following:

  • Nerve pains

  • Migraines

  • Anxiety

  • Depression

  • Schizophrenia

  • Bipolar Disorder

  • Leukemia

  • Colon Cancer

  • Pregnancy problems 

  • High-risk of miscarriages

MTHFR Gene Mutation Diagnosis And Testing

Not everyone needs to undergo gene testing to determine if they have the MTHFR variants of concern. Often, doctors discover problems caused by this gene mutation after thoroughly reviewing the patient’s medical history, conducting physical examinations, and taking notes of symptoms. If the doctor suspects MTHFR gene mutation, they could run several blood tests to determine the patient’s homocysteine levels.

You may be a candidate of MTHFR gene testing if:

  • You have a relative that has MTHFR mutation.

  • You have elevated homocysteine levels in the blood.

  • You have a close family member that has premature cardiovascular disorders.

  • You have suffered from multiple miscarriages.

Newborn babies usually undergo various routine tests and blood exams to screen for different conditions and diseases. If you, your spouse, or a close family member have an MTHFR gene mutation, you may ask your pediatrician to conduct gene testing for your baby to screen for this gene problem.

MTHFR And Pregnancy

Women who have problematic MTHFR gene mutations should be more careful when they’re pregnant. They should follow the instructions of their OB for a successful pregnancy. Some risks to look out for are blood clots, preeclampsia, and miscarriages.

There may also be a higher risk that the baby will have congenital problems. Studies show that women who possess the two copies of the C677T variants are prone to giving birth to babies that suffer from neural tube defects, which are congenital disabilities of the spinal cord, spine, or brain. 

Treatment And Management

People who test positive for MTHFR mutations don’t need to take any medications or undergo unique treatments. Like everybody else, they can live a long and healthy life by following a balanced diet, exercising regularly, and managing stress. 

In the unfortunate case where problematic MTHFR gene variants develop cardiovascular problems, mental health issues, and cancer, your doctor will still treat you according to your underlying condition. No pill or supplement could magically cast away your gene mutation problem. So, if you have cardiovascular issues, your doctor will give you medications for such conditions.

The Bottom Line

Many articles on the internet offer misleading information about the MTHFR mutation that may cause panic and fear. Understanding this inherited gene defect and its diseases may be the best approach to dealing with the condition.



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Rare Diseases 101 Everything You Should Know About The MTHFR Mutation
MTHFR (Methylenetetrahydrofolate reductase) is an enzyme responsible for breaking down a type of amino acid called homocysteine.
Urdu Soft Books: Well-researched and Best Quality Trending Articles | Famous Urdu Books and Novels
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