I have been researching this gene for a few months now and recently got reminded of its importance in my nutrition class at college. It is called the MTHFR gene and it could explain many of the associated symptoms you and I have experienced with having Endometriosis, miscarriages and infertility.
What is a MTHFR mutation?
MTHFR is a specific gene found on a specific chromosome within every cell in every person. An abnormal change in gene structure, called a mutation, of the MTHFR gene can cause a disruption of the MTHFR enzyme’s normal function.
MTHFR mutations are common. The mutations can be “heterozygous” meaning they occur only on one strand or “allele” of the chromosome, or they can be “homozygous”, occurring on both alleles. So, you either got it it from one parent or from both. The frequency of a heterozygous C677T mutation is common, occurring in about 35% of the population (from one parent). The homozygous C677T mutation is about 5–10% of the population (from both parents).
What does the MTHFR gene do?
- The MTHFR gene produces an enzyme responsible for a multi-step process involved in the methylation process. Methylation is a process our bodies perform to detoxify heavy metals, xenoestrogens, excess hormones and toxins. If we have this gene variant, it could explain why we would struggle to process toxins.
- The MTHFR gene instructs the body to make an enzyme necessary to convert folate into a usable form.
- This enzyme is also important in the process of converting homocysteine into methionine, an amino acid the body needs for growth and metabolism.
How does MTHFR affect pregnancy?
Folate is needed to develop a healthy baby. Folate is extremely important for the creation of new cells so it makes sense that you need extra in early pregnancy when you consider that babies are 100% new cells. Folate is especially important for the development of a baby’s nervous system, which occurs within the first few weeks of pregnancy, often before a woman even knows she is pregnant. If she does not have enough folate available to help support this crucial stage in her baby’s development, by the time she gets to the 6th or 7th week of pregnancy (2 or 3 weeks after missing a period), a miscarriage can occur.
If we are unable to convert folate into a usable form, then it makes sense that we simply wouldn’t have enough folate and therefore would struggle to hold onto a baby.
What about the MTHFR gene and Endometriosis?
By now we know that toxins typically experienced as xenoestrogens found in our environment have been associated with the development of Endometriosis. Read more here.
Typical xenoestrogens which affect us include:
- Bisphenol A (BPA): commonly found in plastics
- Polychlorinated biphenyl (PCB)
- some pesticides (particularly dioxin)
- some herbicides
- Polyvinyl chloride (PVC)
We are all exposed to many of these on a daily basis and in some cases we may have overexposure. Without a good detox pathway, the methylation pathway, it makes sense that our bodies will not be able to eliminate these xenoestrogens.
- The MTHFR gene can cause deficiencies in SAMe. SAMe is associated with mood disorders, particularly depression. SAMe is also required for detoxification.
- Glutathione is another significant contributor to detoxification. When you have the MTHFR mutation, it can limit the body to produce glutathione.
So what can we do about it?
- Get yourself tested for the MTHFR gene. I found a great website in Australia that does this testing with just a pin prick of blood and ordered myself a kit straight away. You can find them here. They can send the kit to anywhere in the world.
- Follow the guidelines and information about following a rich folate diet and ensure you are getting adequate amounts of B12.
- Avoid xenoestrogens and toxins within your environment as much as possible.
- Sweat, cleanse the liver and detoxify the body in other ways.
- Stop taking folic acid supplements as they block absorption of folate (the natural form).
Want more insights on the MTHFR gene?
Check out these links: