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:
This Post Has 2 Comments
It is very important to recognise that any gene mutation does not mean that it has expressed. It is seldom called a mutation any more but more commonly referred to as a polymorphism or a SNP (short for single nucleotide polymorphism and pronounced “snip”). The old belief was that we were stuck with the genes we had but this has now been found not to be true. Genetic polymorphisms only express according to the environment they are exposed to e.g. the air you breathe, the food you eat, the thoughts you think etc. Gene expression can also be reversed. This whole area is called epigenetics.
Unfortunately, a Polish study found only “moderate evidence for the contribution of SNPs located in genes encoding folate and choline metabolism enzymes to infertility in women with endometriosis.” One of the genes examined was MTHFR. However, I do agree that if a MTHFR SNP is present then it makes sense to address it as it is implicated in many conditions and diseases.
Further issues can be caused if you supplement with B12 and Folate if an MTHFR polymorphism is present without knowing what you are doing especially if there is also a polymorphism on the CBS gene. CBS needs to be addressed first. You run the risk of overstimulating either of the cycles in the methylation process which can destabilise it further and make you feel worse. It can be very tricky and is best addressed with the guidance of someone who knows what they are doing and you know what other polymorphisms you have. MTHFR should not be addressed in isolation of other gene polymorphisms. There’s a much bigger story. The site you mention, mthfr.net was set up by Dr. Ben Lynch and he is the one I would credit with putting MTHFR on the map several years ago. The basic protocol he outlines is really important…he also says “working with a physician who is trained in this area is key.”
http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/ So please, if anyone reading this plans on going down this avenue please get someone to help you.
Getting tested at 23andme is much cheaper as you also get all your DNA mapped, not just the MTHFR. They ship internationally https://www.23andme.com/en-int/
Meditation is also scientifically proven to repair DNA and reverse gene expression so add that to your daily protocol too.
It’s so frustrating that every doctor I’ve had asked me if I was taking folic acid and acted like it was the most important thing for me to do while trying to conceive. Maybe this explains why I’ve lost two confirmed, maybe more, pregnancies around the 5 to 6 week mark.