photo by Anthony Tran on Unsplash
Despite how it looks, I promise I’m not swearing at you! 😂
Every single human has a MTHFR gene, and despite sounding like a curse word, it’s an incredibly important gene.
What is it, what does it do, and how does the MTHFR gene affect your fertility?
Every human body has the gene 5-methyltetrahydrofolate. It’s also known as MTHFR.
MTHFR is responsible for the breakdown of folic acid, which creates folate. Some health conditions and disorders can result without enough folate, or with a malfunctioning MTHFR gene.
The MTHFR gene produces the MTHFR enzyme which is necessary for the proper utilization of folate (vitamin B9), often referred to as folic acid.
The MTHFR enzyme adds a methyl group to folate / folic acid (breaks it down into L-methylfolate) to make it usable by the body.
Methylfolate is a critical nutrient affecting neurotransmitter production, DNA regulation, immunity, and the cardiovascular system. Indirectly, methylfolate affects hormone levels and detoxification.
If you have a MTHFR variant, your ability to break down and utilize folic acid and even folate is compromised. This makes you susceptible to a wide range of problems like depression, postpartum depression, anxiety, difficulty conceiving, miscarriage, migraines, a variety of cancers, inability to detoxify properly, anemia, and much much more.
And the crazy thing?
MTHFR is a very common gene mutation that affects nearly 50% of the population.
You can have either one or two mutations — or neither — on the MTHFR gene. These mutations are often called variants. A variant is a part of a gene’s DNA that’s commonly different, or varies, from person to person.
Having one variant — heterozygous — is less likely to contribute to health issues. Some people believe having two mutations — homozygous — may lead to more serious problems. There are two variants, or forms, of mutations that can occur on the MTHFR gene.
Specific variants are:
Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a homozygous mutation is higher.
Symptoms vary from person to person and from variant to variant and, honestly, unless you have problems or have testing done, you’ll never become aware of your MTHFR mutation status.
Conditions that are linked with having a MTHFR mutation include:
And … the most concerning for TTC mamas—
Increased risks of infertility, miscarriage, and neural tube birth defects, like spina bifida and anencephaly.
Folate and vitamin B12 deficiency caused by MTHFR gene mutations can create issues beginning even before you start trying to conceive – delayed ovulation – and continue on until the birth of your babe – preeclampsia and birth defects.
Deficiency in B12 and folate can result in fertility challenges by causing changes in ovulation, development of the ovum or issues leading to defective implantation, and ultimately miscarriage. One of the key functions of the MTHFR gene and folate is to oversee the production of healthy DNA, which is crucial during fetal development. This is one reason the variant is likely to cause miscarriages in the absence of adequate methylfolate and vitamin B12.
Deficiency in folate can result in pre-eclampsia, neural tube defects, down syndrome, and cleft palate in babies.
Within the first 28 days of pregnancy, the neural tube, which is responsible for the development of the brain and spine, closes. Inadequate concentrations of folate can prevent closure of the neural tube, which can lead to a neural tube defect.
Depression, anxiety, PMS, PMDD, postpartum depression, chronic fatigue and fibromyalgia rates are higher for women with a MTHFR mutation. In addition, pregnancy can exacerbate a B12 deficiency because high amounts of B12 are needed by the fetus, thus leaving the woman more depleted than she was pre-pregnancy and setting her up for postpartum depression and other mood disorders.
Higher rates of anemia are caused by a B12 deficiency in women who are still cycling and women who are pregnant.
High copper and other heavy metals caused by the body’s impaired detoxification process can inhibit thyroid function.
Abnormalities in the cells of the reproductive tract, cervix and uterine lining which may be diagnosed as cervical dysplasia. Research shows that having an MTHFR variant increases the risk of cervical dysplasia and that having higher folate levels is preventive. Folate is essential for the body to be able to make new healthy cells on the cervix, and it is even more necessary for women who have an MTHFR variant and therefore a decreased ability to turn folic acid into active folate.
Many of my clients with multiple miscarriages discover that they have this gene mutation, which is heartbreaking, because those miscarriages could have been prevented. I always recommend asking your doctor to be tested for this gene mutation even if you’re not TTC. Unfortunately, many insurance companies do not cover the testing so there may be some push back from your doctor to test, but I strongly encourage you to advocate for yourself and push to get the testing done.
The good news about folate deficiency and MTHFR gene mutations is that there are plenty of simple steps you can take to address them, while still optimizing your fertility!
In my practice, I treat everyone as if they have the MTHFR gene mutation. I do this first and foremost because it’s so common and most people aren’t tested for it, and second because the steps to correct it are still beneficial, even if you don’t have the mutation.
Therefore, I recommend the following steps for everyone:
Check all your supplements—especially your prenatal—to make sure it doesn’t list the ingredient “folic acid.” All supplements—especially your prenatal—containing vitamin B9 should say ‘folate’ or ‘5-methyltetrahydrofolate (L-5MTHF). This is the bioidentical, bioactive form of folate and should be the ONLY type of folate listed.
Think fortified cereal, bread, pasta, flour, etc. — check labels! (and unless you’re new to my blog, you already know you shouldn’t be eating these foods anyway).
Especially if you’re trying to conceive! Some of the best sources of folate from food* are:
* remember to buy from small local farms and/or organic and grass-fed whenever possible!
The risks associated with folate deficiency and excess unmetabolized folate in the body are high enough that you’ll want to do everything you can to make sure your body has plenty of methylfolate. Therefore, even if you’re not sure if you have the MTHFR gene mutation, you’ll still want to be sure you’re taking a methylated folate supplement, which is folate that your body can actually use without having to metabolize it.
You’ll also want a quality prenatal vitamin that does NOT contain synthetic folic acid. My number one recommendation for all women thinking about pregnancy, actively trying to conceive, and/or already pregnant are the Prenatal Pro Essential Packets. These all-in-one prenatal packets contain your prenatal multivitamin (providing folate in the bioidentical, bioactive form) + a broad-spectrum multimineral + a high quality omega-3 fish oil. The Prenatal Packets provide potent levels of all necessary vitamins and minerals that play a part in the intricate processes of pregnancy.
In addition to providing sufficient folate, the vitamins and minerals contained in the Prenatal Pro packets provide superior absorption compared to those found in standard prenatal vitamins. These minerals are dosed at levels to help achieve optimal results, such as:
• Calcium and magnesium for healthy bone formation
• Ferrochel chelated iron – most bioavailable on the market, non-constipating
• Significant levels of chelated zinc – may reduce risk of preterm babies
• Iodine – helps support healthy brain development
Every human body has the gene 5-methyltetrahydrofolate. It’s also known as MTHFR. MTHFR is responsible for the breakdown of folic acid, which creates folate.
If you have a MTHFR variant, your ability to break down and utilize folic acid and even folate is compromised. This makes you susceptible to a wide range of problems like depression, postpartum depression, anxiety, migraines, a variety of cancers, inability to detoxify properly, anemia, and difficulty conceiving, miscarriage, and birth defects.
The good news about folate deficiency and MTHFR gene mutations is that there are plenty of simple steps you can take to address them, while still optimizing your fertility!
Curious about your fertility health? Take this simple quiz to find out what factors may be harming your fertility, and learn what you can do about it!
