A Better Understanding of MTHFR Gene Mutation
A mutation in the MTHFR gene causes a person to have what is known as an MTHFR gene mutation. The MTHRF gene regulates how well folate and methionine are converted into other essential micronutrients that the body can use. If you or someone you know has an MTHRF gene mutation, it's vital to understand what this means and what they can do about it.
MTHFR Genes: What are they?
MTHFR stands for methylenetetrahydrofolate reductase, and MTHFR regulates how well folate and methionine are converted into other essential micronutrients that the body can use. If you or someone you know has an MTHRF gene mutation, it's critical to understand what this means and what they can do about it.
Mutations in the MTHFR gene can lead to what is called methylation dysfunction. This means that not all of the folate and methionine you consume will be converted into other vital nutrients, leading to several health problems.
The good news is that you can do things to help support your methylation pathway if you have an MTHFR mutation. Things like taking a quality multivitamin, eating plenty of nutrient-rich foods, and getting regular exercise can all help to support your health.
If you think you may have an MTHFR gene mutation, it's essential to talk to your doctor about what steps you can take to support your methylation pathway.
MTHFR Mutations and their Variants
Mutations in the MTHFR gene can lead to a decrease in the activity of this enzyme. This, in turn, can lead to problems with methylation and folate metabolism.
There are two variants of the MTHFR gene – C677T and A1298C. These variants occur when specific DNA building blocks (nucleotides) in the gene change.
These changes can interrupt protein production and processing, causing different methylation and folate metabolism problems that can lead to serious health concerns such as high homocysteine levels, neural tube defects (NTDs), heart disease, stroke, depression, Alzheimer's disease, or dementia.
The MTHFR-C677T Variant
The MTHFR-C677T variant is the most common and affects an estimated 40% population.
This variant occurs when a cytosine (C) nucleotide in the gene changes to a thymine (T) nucleotide. This change results in producing an enzyme that does not work as well as it should.
Some facts you should know about the MTHFR C677T variant include:
- People with this variant can process all folate types, including folic acid, but they process them a little slower than people without the variant.
- Reproductive women with an MTHFR C677T variant can increase folate in their blood by consuming 400 micrograms of folic acid as recommended by the CDC.
- People with this variant have an increased risk for specific health problems if their blood levels of homocysteine are high.
The good news is that people with this variant can usually lower their homocysteine levels by taking a supplement called methyl folate. Methyl folate helps the body use more of its folate from food or supplements. Some people call methyl folate "the active form of folate.
The MTHFR- A1298C Variant
The MTHFR-A1298C variant is a genetic variation in the MTHFR gene. This means that what it does to your body happens because of a change in DNA, which makes up our genes. The A1298C variant can affect how well you process vitamin B and folic acid (folate).
Having one or two copies of the A1298C variant isn't associated with health risk, as is having two copies of C677T or having a single copy of each variant. This generally means A1298C isn't related to increased health risks as C677T is.
What does it mean to be MTHFR Deficient?
People with two copies of the C677T mutation are considered MTHFR deficient, and this means they have a hard time converting folate to its active form and, as a result, can experience health problems. Folates are essential for pregnant women because they help prevent congenital disabilities, including severe neural tube defects.
Pregnant women with two copies of the C677T or both A1298C and C677T mutations are considered heterozygous MTHFR deficient. People with only one copy of each variant (A1298C + C667T) don't have enough enzyme activity to process folate properly; they're what's called homozygous MTHFR deficient.
Some people who carry the MTHFR gene mutation don't have any health problems. For others, having the mutation can lead to a range of health issues such as:
- Miscarriage
- Preeclampsia
- Premature birth
- Low birth weight baby
- Heart disease
- Stroke
Known Remedies to MTHFR Gene Mutation
So what should you do if you find out you have the MTHFR gene mutation?
If you are pregnant and have the MTHFR gene mutation, your health care provider may recommend that you take a higher dose of folate. Folate is a water-soluble vitamin found in leafy green vegetables, legumes, nuts, and fortified foods.
You should also make sure you are getting enough B12. This vitamin is vital for pregnant women because it helps form red blood cells and prevent anemia. You can find B12 in animal products such as meat, poultry, fish, eggs, and dairy foods.
If you are not pregnant but have the MTHFR gene mutation, you should talk to your health care provider about whether you need to take a folate supplement. Ensure you get enough vitamin B12 as this is important for everyone because it helps keep your energy levels up and supports the normal function of your nervous system.
If you are a vegan or vegetarian, you can get B12 from fortified foods such as breakfast cereals and plant-based kinds of milk or by taking a supplement.
Final Thought
There is a lot to know about what MTHFR gene mutation means and how it affects the body in different ways. If you think you have this condition, speak with your health care provider for more information on what can help or what treatment options are available so that everything runs smoothly. Knowing your MTHFR gene mutation condition is crucial, especially if you're pregnant or planning to become pregnant.
Disclaimer: The content provided is for educational purposes, and we DO NOT promote any treatment but only for learning. It is best to contact your physician for further diagnosis and treatment.
