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  • Jessica Kennedy, CFCP

MTHFR...Wait, What?




In this new age of technology and DNA testing which allows us to find out where our ancestors came from and even medical history information, it can sometimes be confusing to navigate all the information. Do not fear, even with all the facts you uncover, there are answers. A lot of these new mutations or gene information we can discover about ourselves can help us figure out what is going on with our health. So let's explore a gene mutation that has become quite the phenomenon.


One gene mutation we have discovered and has become very prevalent is, MTHFR. This gene mutation was discovered in 1988 when scientists were looking at patients with heart diseases. MTHFR stands for, methylenetetrahydrofolate reductase. If someone has this mutation is important to understand how MTHFR works in order for you to make healthier choices. Understanding this mutation can help with having better mental health, having a healthy pregnancy, regular cycles, and many more things to live a better life.


The MTHFR mutation can be seen in two ways. Homozygous meaning you have both copies of the gene or heterozygous which means you have one copy of the gene. There are two main variants of MTHFR which are C677T and A1298c. These variants disrupt the methylation process of Folic acid, folate, B12 and causes high homocysteine levels. Someone who has homozygous C677T can only methylate at 30% and with heterozygous it is 60%, this means Homozygous MTHFR C677T has a higher rate and disposition to illnesses like heart disease, blood clots, mental illness and infertility.

Since MTHFR C677T has lower rates of methylation, this means they are not converting folic acid into usable resource for the body and becomes toxic to the body, most people can have headaches, weight gain and other symptoms for consuming folic acid which can be found in gluten, sports drinks and some prenatal vitamins, just to name a few. Folate is found in vegetables and whole foods, this can be broken down by some one with MTHFR but only to the 60 or 30%. Often for people with this mutation to get the recommended does of folate or B12 they need the vitamins methylated. The methylated vitamins can really change your over all health because your body will work better and lower homocysteine levels.


Now what is a homocysteine and why is it so dangerous if it is high? Homocysteine is an amino acid that needs to be broken down by B12, B6 and folate to make chemicals your body needs. High homocysteines can occur in people with MTHFR because they can’t methylate the B12 and folate. The high homocysteines can contribute to heart disease, blood clotting issue, dementia, birth defects, infertility both primary and secondary.


It is very interesting that people who have a hard time losing weight or are generally more swollen should try to stop eating things enriched with folic acid, like gluten. It has been seen they might suddenly loose weight easily and have less swelling. It is important when trying to conceive when you have the MTHFR gene to pick a prenatal vitamin with methylated folate and not one with folic acid. The great thing about Creighton NaPro is that when someone is experiencing infertility they will check for genetic mutations like MTHFR. NaPro doctors have a special protocol for MTHFR patients who are trying to conceive as well as pregnancy. If you would like to learn more about Creighton and NaPro please reach out to our center or one of our Fertility Care Practitioners.

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