The Gene Mutation That Affects 40% of People

Robin Berzin, MD
Medically Reviewed
April 19, 2018

If you’re wondering, “What is MTHFR?” you’re not alone. This primer will tell you everything you need to know about this gene and its common mutation.

Your body is made up of trillions of cells, each containing your genes—the set of instructions for making you who you are. Genes are segments of DNA and each gene provides a particular set of instructions, usually coding for a specific protein or function.

Humans have an estimated 20,000 genes, and MTHFR is the one that helps your body process folate. Unfortunately, 30-60 percent of all people carry an MTHFR gene variant that may lead to low levels of folate and B vitamins and high levels of homocysteine in the blood. Over time, the downstream effects of mutations in the MTHFR gene can put people at higher risk for many common health problems, such as preventable heart disease, colon cancer, stroke, Alzheimer’s disease, and more.

So how do you know if you have a MTHFR variant and what can you do about it? Read on for an outline of the most common symptoms of the MTHFR gene, see what testing is available, and discover the best natural treatments to help you manage symptoms for the long term. (Note: While this article is about MTHFR and its implications, it's best to look at your genetic health as a whole. Parsley Health members have access to expanded panel testing so we can see how their genetics impact their overall health.)

What exactly is an MTHFR mutation?

MTHFR is a gene that provides the body with instructions for making an enzyme called methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid, MTHFR converts it into methyl-folate (folate’s active form).

Methyl-folate is critical to methylation, which helps to optimize a huge number of processes in your body, including the production of DNA, the metabolism of hormones, and proper detoxification.

There can be one abnormal variant (heterozygous) or two (homozygous), which are passed down from parent to child. The more variations you have, the more issues your body will have with methylating.

An MTHFR gene mutation may change the way you metabolize and convert nutrients from your diet into active vitamins, minerals, and proteins your body can use. This genetic mutation may also affect hormone and neurotransmitter levels, brain function, digestion, cholesterol levels, and more.

What is methylation and why is it important?

Our bodies are incredibly complex machines. Methylation is the process that allows some internal switches (i.e., bodily receptors) to turn on and off to function efficiently. SAMe—also known as S-adenosyl-L-methionine—is known as the universal methyl molecule that donates a methyl (CH3) group to enable our cardiovascular, detoxification, and neurological systems to perform. If methyl-folate is not present, this methylation process simply halts, resulting in a myriad of symptoms.

Symptoms of an MTHFR gene mutation

MTHFR mutations affect everyone differently, and symptoms can vary from long-term health issues to hardly noticeable changes in overall health. Research has shown an association between MTHFR mutations and several health problems including:

  • ADHD (attention deficit hyperactivity disorder)
  • Autism
  • Autoimmune disease and thyroid issues
  • Cardiovascular disease
  • Chronic fatigue
  • Colon cancer
  • Digestive issues , including IBS (irritable bowel syndrome)
  • Hormonal issues, including PCOS (polycystic ovary syndrome)
  • Migraines
  • Schizophrenia

Research has even found an association with an MTHFR mutation and depression, anxiety, and other mental health disorders. MTHFR produces an essential enzyme that converts folate into a form that plays a role in mood-regulating neurotransmitter production.

Natural treatments for MTHFR mutation symptoms

Having an MTHFR mutation doesn’t automatically mean you will experience the symptoms or health issues outlined above. MTHFR mutation symptoms also depend on which variant of the mutation you have and whether the variations affect both of your MTHFR genes.

Having the MTHFR mutation is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptoms, and optimize your overall health.

1. Consume more folate and vitamin B12.

Consuming more folate in your diet may aid with methylation. Some of the best whole-food sources of folate include dark leafy greens, avocado, and lentils.

Those with an MTHFR mutation are also at higher risk of being low in vitamin B12 . Vitamin B12 can be supplemented easily without a prescription, whether as isolated B12 or present in multivitamins and B complex vitamins. Always check with your provider what is best for you. Foods high in vitamin B12 include pastured eggs, nuts, beans, and nutritional yeast. Additional foods that support healthy methylation include asparagus, avocado, broccoli, and legumes.

2. Support detoxification.

Because reduced methylation contributes to poor detoxification, it’s important to support your body’s natural elimination pathways.

Tips to improve detoxification include:

  • Eat a high-fiber diet (30-50 grams per day).
  • Eat anti-inflammatory foods such as vegetables, well-sourced protein, healthy fats, and fruits. Remove all refined sugars from your diet.
  • Move and sweat regularly, at least 4-5x per week, including regular sauna treatments and Epsom salt baths.
  • Keep your bowels moving and stay well hydrated so that you can take advantage of your primary detox mechanisms, urination and defecation.
  • Take advantage of antioxidants, fiber, and phytonutrients that support detoxification.
  • Avoid exposure to toxins like chemical house cleaners. They can inhibit methylation and act as endocrine disruptors in the body among other things.

3. Minimize alcohol intake.

Alcohol intake can make symptoms worse by inhibiting DNA methylation and increasing the demands of detoxification on the liver. Limiting your consumption of alcohol can support less interference in already stunted methylation processes in those with MTHFR genetic mutations.

If you do decide to drink alcohol, it should be consumed in moderation—up to one drink per day for women and two drinks per day for men—and preferably in the forms of tequila, vodka, and mezcal, rather than wine and beer. Read about some of our best biohacks to help you cut back on your alcohol intake.

4. Manage your stress with lifestyle changes.

Those with MTHFR genetic variations are more likely to have an imbalance of neurotransmitter levels, which can affect mood and irritability, especially when stressed. In fact, high levels of stress can exacerbate MTHFR mutation symptoms. Tips for decreasing overall stress include starting a regular meditation practice, journaling, spending time in nature, and volunteering but ultimately, uncovering the specific activities that help you to unwind, stay grounded, and decompress are the most important tools to help manage personal stress levels on a daily basis.

5. Check your supplements.

People with MTHFR mutations might have more difficulty converting folic acid into its usable form, and this may cause symptoms to worsen. Check if your current supplements contain folic acid and if they do, stop taking them or switch to another brand. It’s important to opt for a supplement that contains the most bioavailable form of folate—methyl-folate—which can help your body absorb the vitamin more efficiently. Additional supplements that help support this genetic variant include magnesium, vitamin D, and vitamin B6.

6. Heal any underlying digestive issues.

Healing and supporting your gut is critical to improving methylation and bringing your body back to optimal overall health. To improve gut health and digestion , these are some of the best changes you can make to your diet:

  • Promote a healthy microbiome by eating fermented foods like kimchi, kefir, miso, and kombucha, which help to maintain high levels of healthy bacteria in our gut and aid in digestion.
  • Reduce intake of inflammatory foods such as sugar, gluten, refined grains, trans fats, and conventional dairy.
  • Eat more healthy fats. N-butyrate, an anti-inflammatory short-chain fatty acid, helps feed the cells that line the gut and help them heal. You can get n-butyrate in the form of ghee or coconut oil.
  • Consume other gut-friendly foods, including bone broth, organic vegetables and fruit rich in prebiotic fiber, and flaxseeds and chia seeds.

Testing for the MTHFR gene mutation

A genetic test can determine if you have an MTHFR gene mutation or other genetic SNP (single nucleotide polymorphism) variations that may be affecting you. This can be done with any of our Parsley Health medical providers and often is covered by insurance. Other tests that can help confirm an MTHFR mutation include homocysteine levels, hormone level testing, and microbiome labs—all of which can also be ordered and interpreted by your Parsley Health medical provider.

If you suspect you have an MTHFR mutation, work with a medical provider that will order the correct tests to help get to the root cause of your symptoms and rule out any other possible issues.

Ready to get to the bottom of your symptoms? Schedule a free call  to learn more about our root-cause approach, how to pay for Parsley with insurance , and how we can personalize your health journey.

Robin Berzin, MD

Dr. Robin Berzin is the Founder and CEO of Parsley Health, America's leading holistic medical practice designed to help women overcome chronic conditions. She founded Parsley to address the rising tide of chronic disease in America through personalized holistic medicine that puts food, lifestyle, and proactive diagnostic testing on the prescription pad next to medications. Since founding Parsley in 2016, Dr. Berzin has seen 80% of patients improve or resolve their chronic conditions within their first year of care, demonstrating the life-changing value of making modern holistic medicine accessible to everyone, anywhere. Parsley is available online nationwide.

Dr. Berzin attended medical school at Columbia University and trained in Internal Medicine at Mount Sinai Hospital in New York City. Her book, Prescription for Happiness: How to Eat, Move, and Supplement for Peak Mental Health, was published by Simon Element in January 2022.

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