If you’re wondering “what is MTHFR?” you’re not alone. Here’s a primer on what you need to know about this common genetic 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 a particular function.
Humans have an estimated 20,000 genes, and one of those is the MTHFR gene. Unfortunately, 30-60% of all people carry an MTHFR gene variant, putting them at higher risk for 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? This article will outline the most common symptoms, testing available, and the best natural treatments to help you manage symptoms for the long term.
What exactly is an MTHFR mutation?
MTHFR is a gene that provides the body with instructions for making a certain 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, 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 incredible, complex machines. Methylation allows some switches (i.e. bodily receptors) to turn on and off to function efficiently. The SAMe is a 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 process simply halts all production 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 any noticeable changes in overall health. Research has shown an association between MTHFR mutations and several health problems including:
- ADHD (Attention Deficit Hyperactivity Disorder)
- Autoimmune disease and thyroid issues
- Cardiovascular disease
- Chronic fatigue
- Digestive issues, including IBS (Irritable Bowel Syndrome)
- Hormonal issues, including PCOS (Polycystic Ovary Syndrome)
Research has even found an association with an MTHFR mutation and depression 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 above. 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 symptom, 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 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 an anti-inflammatory diet filled with vegetables, good quality 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 gut moving and stay well hydrated so that you can take advantage of your primary detox mechanisms, pee, and poop.
- Take advantage of specific supplements, like antioxidants, fiber, and phytonutrients that support detoxification.
- Avoid exposure to toxins like chemical house cleaners. They can inhibit methylation, among other things.
3. Minimize alcohol intake.
Alcohol intake can make symptoms worse by interfering with methylation. If you decide to drink alcohol, drink 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.
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.
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 stop taking them or switch to another brand. Additional supplements that help support this genetic variant include magnesium, Vitamin D, and Vitamin B6.
6. Heal any underlying digestive issues.
Healing 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, a 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, and flaxseeds and chia seeds.
Testing for the MTHFR gene mutation
A genetic test can determine if you have an MTHFR gene mutation and which variation affects you. This can be done with any of our Parsley Health physicians and often is covered by insurance. Other tests that can help confirm an MTHFR mutation include homocysteine levels, hormone level testing, and microbiome labs.
If you suspect you have an MTHFR mutation, work with a provider that will order the correct tests to help get to the root cause of your symptoms and rule out any other possible issues.