MTHFR – Curse Word Or What?

If you’ve never heard of MTHFR you are probably looking at it going what kind of shortened version of a curse word is that? It’s actually not a curse word at all but stands for methylenetetrahydrofolate reductase, which plays a key role in many of our bodies methylation pathways. So let’s talk more about this gene.

MTHFR: What Is It And What Happens If It Is Mutated?

When this gene mutates it can actually cause some chaos in the body, which I guess is true with any gene mutation, but no need to panic. However, I want to bring awareness about this specific mutation because it can actually be behind more health ailments than what people are aware of. Just might help you get closer to finding that root cause for something you are dealing with.

MTHFR specifically comes into play because it is the key gene in the methylation cycle. The methylation process is really important in our bodies, because not only does it help maintain and repair your DNA, it also alters proteins. The MTHFR gene codes for an enzyme that specifically turns folate into an active form that your body then can use. This, along with the active form of vitamin B-12 are crucial to your methylation cycle.

Some examples within the body that use the methylation cycle are: within the nervous system it is responsible for the producing and breaking down of neurotransmitters and also detoxing out harmful toxins in your body. In regards to our heart health it is important in controlling the level of homocysteine in our body, which is related to your risk of heart disease and cholesterol levels. Another methylation cycle is how our body regulates our hormones. Specifically for women, regulating how much estrogen is in our body. I could go on but are you catching my drift about just how important it is to know if you have a mutation when it comes to this specific gene?

With that being said if you have a genetic variation of the methylation pathway it can alter how well one of the above pathways works in your body. If you are aware of this you may also now know what a root issue may be behind the health issue that you are dealing with, and that you need to give your body some much needed support in that specific area. It can also give you a heads up before you deal with a health ailment, because you are aware that your pathways are working slower than those without the mutation and be proactive. It will also be important to know if you have this mutation when it comes to pregnancy and your kids.

Can you believe that more than half of the population has a genetic variant in this gene?

Every person has two different MTHFR genes, inheriting one from each of your parents. Dependent on each individual, the mutation could affect either one (heterozygous), or both (homozygous) of the genes. The two common mutation types are located on the C677T and A1298C allele, and is passed down. So if only 1 parent has the mutation the odds are that you will be heterozygous with the mutation, but if both parents have the mutation then it is likely you will be homozygous. I had a test done awhile back and when I started looking more into this topic, I decided to revisit that test to see what I could find out about myself. Here are my results from the genetic testing I did:

You can see the different letter alleles in this are A, G and T. At the rs1801133 genetic marker you can have results like the following:

• G/G: normal
• A/G: one copy of MTHFR C677T allele (heterozygous)
• A/A: two copies of MTHFR C677T (homozygous)

As you can see my test came back as A/G on this gene, meaning I have the mutation at this specific mark. The second genetic marker is rs1801131, and your results will look like the following:

• T/T: normal
• G/T: one copy of MTHFR A1298C (heterozygous)
• G/G: two copies of MTHFR A1298C (homozygous)

At this marker it came back as T/T meaning there was no mutation on this gene. If you have done or choose to do a genetic test you will want to look at these two specific gene locations.

Most people are unaware that they have the gene mutation unless they have undergone genetic testing for any reason. Two different options you have for testing finding out if you have this mutation are: genetic testing or testing your homocysteine levels in your blood or urine. The homocysteine test can be done at your local doctors’ office. As far as genetic testing, you can find some great at home genetic testing kits at 23andMe, which is how I found out I have the MTHFR mutation.

Health Conditions Linked With The MTHFR Gene Mutation:

• cancers
• anemia
• mental health (anxiety, depression, bipolar, etc)
• cardiovascular diseases and thromboembolic diseases (specifically blood clots, stroke, embolism, and heart attacks)
• chronic pain
• migraines
• miscarriages/fertility issues
• glaucoma
• scoliosis
• birth defects (cleft lip, etc)

Helpful Tips If You Have a MTHFR Mutation

1. You should avoid synthetic folic acid in supplements and foods. People with the MTHFR mutation cannot metabolize folic acid effectively, so if you do take this supplement or eat processed foods with folic acid, then you can actually create a toxic effect in the body. A suggested alternative to taking supplements with folic acid would be to take a methyl folate supplement instead, which your body will be able utilize. A great option for you would be this supplement here. For women trying to conceive, they recommend you take a prenatal before getting pregnant correct? However, if you have the MTHFR mutation you should be aware that if you are taking a prenatal vitamin that most supplements at your local stores will have folic acid in it. Folic acid can actually be making it hard to conceive or even cause a miscarriage, since your body may be trying to get rid of the toxins and is now sending a message saying the environment in your womb is not safe to carry a baby at this time. It may be something to consider finding out if you have, if you are having infertility issues, as this could be the root cause to that issue. A great prenatal you can use is this supplement.
2. Increase your intake of foods high in folate. Some great foods that are high in folate are your leafy greens, broccoli, lentils, beans and asparagus. If you don’t feel like you are getting enough folate from your foods you can always add in the methyl folate supplement that I listed in #1.
3. Get your homocysteine levels checked and take your B vitamins. As I briefly mentioned before, those with MTHFR mutation may have high levels of homocysteine, which has been associated with a higher risk for heart disease. Once you are aware that you have the mutation, getting your levels checked once a year may be a great proactive step. Along with the methyl folate, you will need your B vitamins to keep those homocysteine levels lower in the body, especially vitamin B12 and B6. Some foods that are high in B12 and B6 are beef, liver, chicken, salmon, and eggs. I also use a great green drink that is high in the B vitamins.

XOXO ~ Brooke

Resources:

• Healthline: What You Need to Know About the MTHFR Gene?
• Genetic Life Hacks: MTHFR: HOW TO CHECK 23ANDME OR ANCESTRYDNA FOR FREE
• Food For The Brain: Methylation and Homocysteine
• Medical News Today: What is an MTHFR mutation?
• U.S. National Library of Medicine: MTHFR Gene

*Disclaimer: Always consult with a professional medical practitioner before taking any dietary supplements or recommendations listed, especially if pregnant, nursing, taking prescription medications or under a doctor’s medical care.