The Mother F’er Gene (MTHFR)

Let’s talk MTHFR….the gene that’s getting lots of attention these days because of the many symptoms and conditions (listed below) that can result from a poor functioning MTHFR gene. We’re going to go through some frequently asked questions about genetics, specifically, MTHFR, and provide direction for those of you wanting to get tested.

If MTHFR is something you’ve never heard about or considered, and you experience any of the signs and symptoms listed below, today is your lucky day! With a little bit of information, and an inexpensive test, you can essentially give yourself some insurance against your genes. You’ll be able to determine just how hard you need to work to keep symptoms turned off, or at least as low as possible with actionable steps. Knowledge is power, and it’s the key to unlocking the mysteries to what ails you.

Before we dive in, there’s one thing we need to clarify. As you read through this article, please remember that genetics are like a framework for your body. Think of it like a car. The framework of the car can look fancy on the outside but have a broken engine, which means the car won’t work well. It can also have a not-so-pretty exterior but run like a charm because it’s well maintained. Similarly, you can have great genetics but express symptoms or disease because of lifestyle choices like poor diet, excessive drinking, negative thinking, and lack of sleep. Or, you can have genetic issues, like MTHFR, but because you live a healthy lifestyle, you are well. Just know genetics are not everything! Lifestyle is just as, if not more, important. Ok, let’s go!

What is MTHFR?

MTHFR stands for Methylene-tetra-hydro-folate-reductase. It’s a gene in the body that acts as an enzyme, and one of its important roles is to tell the body to make a nutrient called folate (1). Folate plays a role in DNA production, immune system, detoxification and so much more.

What is an MTHFR Mutation?

When people refer to an issue with the MTHFR gene, they often mistakenly classify it as a genetic “mutation,” but it’s actually a Single Nucleotide Polymorphism, or SNP (pronounced “snip”). That’s a sciency term we’ll break down for you. Think of a SNP as a misspelling in your genes. When a gene should say, “CAT,” it says “CUT” instead. That little switch changes how your gene works. If you were reading a sentence, saying CUT instead of CAT would change the meaning of the sentence. See the image below for a visual.

We are all born with a set of DNA that cannot and will not change. However, how the gene works or expresses can change. This is called “epigenetics.” Some people are born with a “normal” set of genes for MTHFR, while others are born with some misspellings. This is part of our biochemical individuality. Information on how SNPs are labeled is in the chart below.

What are Symptoms of MTHFR?

We’ll list symptoms and risks of MTHFR misspellings, but please remember, you have some control with diet, lifestyle and mindset!

Signs and Symptoms associated with MTHFR SNPs:

• Autoimmune disorders
• Autism
• ADHD
• Addictions
• Anxiety
• Spina Bifida
• Depression
• Diabetes
• Bipolar Disorder
• Schizophrenia
• Headaches/migraines
• Infertility
• Pregnancy issues (miscarriages, preeclampsia, postpartum depression)
• Cardiovascular issues
• Chronic pain
• Strokes
• Poor tolerance to stress

What do Positive Results Look Like or Mean?

Sometimes people consider a misspelling/SNP as a diagnosis or death sentence. This is not the case at all! It’s just a part of your story. Instead, we recommend you refer to it as a genetic misspelling you have. If you want to get fancy, you can call it a polymorphism or a SNP. Another way to note a misspelling/SNP is with a “+” sign. Here’s a chart to help clarify some common terms you’ll see around genetics.

How SNPs are Labeled		Meaning	What to Do
Wildtype	-/-	“Normal” gene	Consider your symptoms, possibly make modifications. If you have a healthy lifestyle, you’re likely completely fine. If you have an unhealthy lifestyle, you’re at greater risk for symptoms and disease listed above.
Heterozygous (Sometimes referred to as “heterozygous positive”)	-/+	One misspelling Generally, the gene might be slightly slower than normal	Consider your symptoms, possibly make modifications. If you have a healthy lifestyle, you may be completely fine. If you have an unhealthy lifestyle, you’re at greater risk for symptoms and disease listed above.
Homozygous (Sometimes referred to as “homozygous positive”)	+/+	The gene has 2 misspellings Generally, the gene is slower than normal	Consider your symptoms, possibly make modifications. Ensure you’re getting adequate nutrients via food and/or supplements. If you have a healthy lifestyle, you may be completely fine but likely need to monitor certain labs and symptoms more closely. If you have an unhealthy lifestyle, you’re at greater risk for symptoms and diseases listed above.

 

Which Specific MTHFR Genes are Most Important to Note?

Currently, a majority of the research on MTHFR has been done on two variants; MTHFR 1298C and MTHFR C6779.

Various MTHFR Genetic Combinations
MTHFR 1298C	MTHFR C6779	Genetic Meaning		Notes/Recommendations
-/-	-/-	Wild type for both	“Normal” gene	Maintain a healthy lifestyle to keep the genes working well.
-/+	-/+	Heterozygous for both	Reduced function in both 1298C and C6779	This combination leads to ~70% reduction in methylation so diet and lifestyle are extremely important!
+/+	-/-	Homozygous 1298C, wild type C6779	Reduced function of 1298C gene	Increased risk for poor estrogen metabolism and mood disorders. Treat according to symptoms.
-/-	+/+	Wild type 1298C, homozygous C6779	Reduced function of C6779 gene	Increase risk for cardiovascular issues and poor methylation. Monitor homocysteine levels.

 

How do I test for MTHFR?

Testing for MTHFR SNPs is fairly easy. Many doctors use a simple blood test. For many, that will be the easiest method and runs around $150-$200. It can be covered by insurance, but not always. You can also get more genetic information through saliva tests like 23andme and ancestry.com for $99. These companies will provide raw data which you can then download and import into another platform like Genetic Genie to get information on MTHFR and other genes. You only need the $99 version, and then you get a lot more information about yourself far beyond a doctor’s specific blood test.

Do I Ever Need to get Retested?

Nope! Your genetics are yours forever. No need to retest; your results never change.

If I have MTHFR “Misspellings” What do I Do?

1. Step 1: Relax. This is just one gene among ~23,000. Now that you know you have a little weakness here, you can take steps to keep yourself well! Review the chart above titled “Various MTHFR Genetic Combinations” and find the row that fits your genetics.
2. Step 2: Assess yourself! Make a list of your symptoms, think about how you feel, check in with your diet, sleep, stress, etc.
3. Step 3: Ensure you’re eating food sources of folate. These include: dark leafy greens, spinach, kale, collard greens, chard, mustard greens and beans.
4. Step 4: If you decide to supplement, ensure you are taking an active form of folate (not folic acid). This is especially important because those with MTHFR SNPs do not make folate well, so they need to get this via food or supplements.
5. Step 5: If you do supplement, check your labels!
   1. Proper folate supplementation:
      1. Avoid anything that says “folic acid” on the label.
      2. Use products that specify folate, MTHF, L-5-MTHF, metfolin, or folinic acid.
      3. Warning: more is not always better with supplementation! It is possible to over-methylate which can trigger shortness of breath, anxiety, irritability achy body, headaches and insomnia.

Resources:

1. https://ghr.nlm.nih.gov/gene/MTHFR