Everyone has a unique “code” that makes you, well you. No, not like a computer code or a secret code. We’re talking about your unique genetic makeup! Included in that code may be certain variations, or mutations. Don’t worry, everyone has them! One in particular that is common is the MTHFR gene mutation, but what is it really? And does it affect your fertility and reproductive health?
Recently, in functional medicine and even mainstream medicine, MTHFR gene mutation has been getting a lot of attention. New research found that this mutation leads to a decreased ability to detoxify, as well as over 60 chronic health conditions!
This may seem unrelated, but stay with me here. You guys know how passionate I am about fertility and reproductive health. Not only do I love helping women optimize their health and find joy in the process, I also had my own health issues during my first pregnancy. After the birth of my baby I developed severe preeclampsia and almost died. What we didn’t know at the time was that the MTHFR gene mutation was part of the cause.
The gene mutation MTHFR is no joking matter. Let’s get into the details.
Variants of the MTHFR Gene Mutation
People have two MTHFR genes, one from their mother and one from their father. Mutations can occur in one (heterozygous) or both (homozygous) of these genes. That means you can have either one or two mutations, or none at all. This can be a variable when you get pregnant.
A variant is a part of a gene’s DNA that is commonly different, or varies, from person to person. There are two variants, or forms, of mutations that can occur on the MTHFR gene.
- C677T. About 30 to 40 percent of the American population may have a mutation at gene position C677T. Roughly 25 percent of people of Hispanic descent, and 10 to 15 percent of Caucasian descent, are homozygous for this variant.
- A1298C. There’s not as much research on this variant. Available studies are generally geographically based so it’s more difficult to say what percentage of people do or do not have this variant.
MTHFR stands for methylenetetrahydrofolate reductase. It’s an enzyme that converts folate into the active form (5-mTHF) that can be used to make S-adenosylmethionine (SAMe). SAMe is essential for a process called methylation. Every cell in your body experiences methylation. The MTHFR gene also helps to keep homocysteine in the blood within normal levels.
If you have one of the two variants that means your MTHFR gene is not functioning properly. At the heart of the problem is a methylation deficit, which can be a problem when you are pregnant.
Let’s take a look at some of the symptoms of this gene mutation.
Symptoms of a MTHFR Gene Mutation
There is a wide range of symptoms for MTHFR gene mutations including insomnia, anxiety and migraine. Since these are also related to other health issues, it can be hard to diagnose unless you are screened for the mutation.
Since every cell in your body experiences methylation there are a wide range of symptoms you may experience if you have one of the MTHFR variants. We can’t forget the effects of abnormal levels of homocysteine in the blood, either. Additionally, research on the links between MTHFR and certain symptoms is still forthcoming. We know a lot, but we may not have the full picture.
More than likely, unless you develop a problem and have testing done you will never know if you have a MTHFR gene mutation.
Fatigue is probably the most common symptom of a methylation deficit. Other symptoms can include:
- Anxiety
- Depression
- Insomnia
- Irritable Bowel Syndrome
- Allergies
- Headaches (including migraines)
- Muscle pain
- Addictions
- Digestive issues
- Multiple miscarriages
- Autism
A methylation deficit can also increase your risk for conditions like osteoporosis, diabetes, colon and lung cancer, birth defects, dementia, stroke and cardiovascular disease.
Should Pregnant Women be Screened for MTHFR Mutation?
Because the symptoms of a MTHFR gene mutation are so varied, it’s important to screen for it early. When you are preparing to get pregnant, it’s helpful to know your body’s ability (or disability) to produce certain enzymes so I recommend screening for women who are of childbearing age. When you work with a functional medicine practitioner they will also look out for high levels of homocysteine, or low levels of folate and vitamin B12. Those are all flags for potentially-imparied methylation.
This may seem like a long list, but if you have any of these conditions (or family history), you should consider screening for MTHFR mutations:
- ADD/ADHD
- Addiction
- Allergies
- Alzheimer’s Disease
- Anxiety
- Asthma
- Autism
- Behavioral disorders
- Bipolar disorder
- Cancer
- Chemical sensitivity
- Chronic fatigue
- Cleft palate
- Dementia
- Depression
- Diabetes
- Downs syndrome
- Fertility issues
- Fibromyalgia
- Heart disease
- High blood pressure
- Insomnia
- Multiple sclerosis
- Neuropathy
- Parkinson’s Disease
- Pre-pregnancy and pregnancy
- Schizophrenia
- Thyroid disease
Now, the question is, “Can women with MTHFR mutation have a normal pregnancy?”
Risk Factors of MTHFR Mutation
The MTHFR gene is something you inherit from your parents. That means that having a parent or a close relative with a MTHFR mutation increases your risk of also developing that variant. Additionally, people who have two parents with mutations have an increased risk of having a homozygous MTHFR mutation.
Treatment of Methylation Deficits
If you’ve taken an MTHFR test and found out you have one or more mutations, you might be feeling a little hopeless. But, there is a reason to hope. Your genes do not have to control your destiny. Knowledge is power, and knowing your gene variants will help you create a plan to address whatever challenges they pose.
Often, having one of the gene variants doesn’t always mean you need medical intervention. In fact, it could be as simple as taking a vitamin B supplement. Working with a functional medicine practitioner will help you come up with a comprehensive, holistic plan.
One thing to remember is that the MTHFR gene mutation also disrupts homocysteine. There are several preventative measures you can take to normalize those levels. A few examples include:
- Stop smoking if you smoke
- Getting enough exercise
- Getting on a healthy, whole-food diet
MTHFR and Pregnancy
MTHFR mutation can be dangerous when you are pregnant as it inhibits your ability to produce the right amount of folic acid and other B vitamins.
I will give you an overview in this article, but look for a more in-depth article on MTHFR and pregnancy coming next week.
If you’re a woman of childbearing age you’ve probably heard about folate. It’s critical to the health of your developing baby. Folic acid is the man-made version of folate. Most people are encouraged to take a multivitamin that contains at least 0.4 milligrams of folic acid each day, while pregnant women are encouraged to take 0.6 milligrams each day.
MTHFR is so dangerous during pregnancy in part because the gene mutation inhibits the way the body processes folic acid and other important B vitamins.
Work With A Holistic Health Coach
If you think you may have one of the MTHFR gene variants, consider working with a functional medicine practitioner. As a Holistic Health Coach and Naturopathic Doctor I take a whole-person approach to health. I will help you get screened, interpret the results, and create a comprehensive care plan. Fill out the form on my contact page to get started!
Mandy Patterson
