You may have heard the word MTHFR while surfing the internet, or from a friend. When you hear it mentioned along with a "gene mutation", you may be a little scared and curious. "Oh, I don't know if I have this too, will this cause a serious illness?" You may be thinking. Is this really as serious and something to be afraid of as many people think? So today, let's talk very simply and friendly about what MTHFR is and whether we should really be afraid of it.
First of all, what is this MTHFR gene?
Think of our body as a very complex, amazing factory. This factory has a set of instructions for doing everything. This instruction book is our genes. MTHFR is also a very important gene in our body. The main function of this gene is to instruct our body to make the 'MTHFR protein'. This protein is indispensable for us. Because, the
B vitamin called
folate , which is found in the foods we eat, is converted into an active
form that our body can use. This active folate is essential for making basic things in our body, like
DNA .
So what is this "mutation"?
A mutation is a small change in the instructions in this gene. It's like a small change in the letters in a book. This change can make the MTHFR protein less efficient. That means it doesn't process the vitamin folate as well. When this folate isn't processed properly, the level of an amino acid called
homocysteine in our blood can increase. In the past, doctors thought that high levels of homocysteine were the cause of many diseases, such as heart disease and blood clots.
However, new research is now showing that the MTHFR mutation and elevated homocysteine levels do not pose as great a health risk as many people think.
What symptoms does an MTHFR mutation cause?
Here's the most important and comforting thing.
The vast majority of people with the MTHFR gene mutation don't have any symptoms. They live completely healthy, normal lives. Many people don't even know they have the mutation. In very rare cases, some symptoms may occur. But it's not common. However, research has suggested that people with this gene mutation may have a "certain increased susceptibility" to developing certain health conditions. But this doesn't mean that everyone with this mutation will develop the disease.
| Possible relationship situation | Simple things to know |
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| Blood clotting tendency (Thrombophilia) | Although there is a belief that some people may have a slightly increased risk of blood clots, the MTHFR mutation alone is not currently considered a major cause of this. |
| Complications during pregnancy | Although it is said to be linked to things like miscarriages and high blood pressure, this view has been largely rejected today. |
| Children with Neural Tube Defects | This is something that many people fear. But this risk can be almost completely avoided by taking folic acid properly during pregnancy. We will talk about that further. |
| Diabetes-related neuropathy | There is a belief that people with diabetes who also have the MTHFR mutation may have a slightly increased risk of developing neurological problems. |
Do I need to do a test to find out?
There is a blood test to detect this genetic mutation. However,
major medical organizations like the American College of Medical Genetics do not recommend this test for the general public. There are several reasons for this:
- Uselessness: As we mentioned earlier, most people with this mutation do not experience any health problems. So even if you get tested and find out you have it, it won't change your life. It may just cause you to panic.
- Better option: If there's one thing you really want to check, it's your blood homocysteine level. It's a simple, inexpensive blood test. If your level is elevated, you can talk to your doctor about what to do about it. Then you don't have to spend money on genetic testing .
Should pregnant mothers really be afraid of this?
This is a very important question. Many pregnant mothers are afraid when they hear about this MTHFR, saying, "Oh, will my baby have a neural tube defect like Spina Bifida?"
The best message you can give is, "Don't be afraid at all." Leading gynecological and obstetrician associations in Sri Lanka and the world (like ACOG) do not recommend testing pregnant mothers for this gene mutation. Because, it is unnecessary. The most important thing is
to take the folic acid pill recommended by the doctor daily without fail before and during pregnancy. The amount of milligrams that is given, even for a mother with this MTHFR gene mutation, has been proven worldwide to be completely sufficient for the healthy development of the baby's nervous system. So, rather than worrying about an MTHFR test, it is a thousand times more important to follow your doctor's instructions and get the right amount of folic acid.
What are the treatments for MTHFR mutation?
There is no need to "treat" the MTHFR gene mutation. It is not a disease. However, if a test confirms that your homocysteine levels are elevated, your doctor will advise you to control it. This usually involves doing the following:
- Folic Acid Supplements : Your doctor will recommend a folic acid supplement that is right for you. They may also recommend vitamin B6 and B12 supplements.
- Folate- rich foods: Add folate -rich foods to your diet.
- Dark green leafy vegetables like spinach, kale, and collard greens
- Legumes like lentils, chickpeas, and peas
- Fruits like oranges and avocados
- Beans
It is best and safest to talk to your family doctor before starting any of these things and follow his or her advice. Take-Home Message
- MTHFR is not a disease. It is just a very common, small change that can occur in our genes.
- The vast majority of people with this mutation do not experience any symptoms or health problems throughout their lives.
- Doctors do not recommend testing specifically for this. Don't panic unnecessarily.
- Pregnant mothers don't need to worry about this. The most important thing is to take the folic acid pill that your doctor gives you every day.
- If you still have any concerns or fears about this, don't be confused by reading things on the internet, but ask your family doctor whom you trust about it.
MTHFR gene mutation, MTHFR gene mutation, folate, homocysteine, pregnancy, folic acid, genetic testing
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