This article has been medically reviewed by Nisha Chellam, MD, and Jaclyn Tolentino, D.O. It contains additional reporting by Jennifer Chesak.
MTHFR is an acronym for a gene in the body, and it's a mouthful: methylenetetrahydrofolate reductase. Some people have an MTHFR gene mutation associated with various symptoms and health conditions—you may have just one MTHFR mutation or two.
The MTHFR gene is one of the main genes that codes for a major enzyme involved in how the body processes folate. About 40 percent of people carry at least one MTHFR gene variant that may lead to low levels of folate and other B vitamins and high levels of hom*ocysteine (an amino acid).
Over time, the downstream effects of MTHFR mutations can put people at higher risk for many common health problems, such as preventable heart disease, colon cancer, stroke, Alzheimer’s disease and other forms of dementia, and more.
How do you know if you have one or more MTHFR variants and what can you do? Read on to learn about the most common symptoms, 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 gene mutations and their implications, looking at your genetic health as a whole is best. Parsley Health members have access to expanded panel testing so we can see how your genetics impact your overall health.
What exactly is an MTHFR mutation?
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.
Your body is made up of trillions of cells, each containing your genes, which you inherit from your biological parents. You get one copy of each gene from the egg and one from the sperm to make a pair. The pairs divide and copy to create your estimated 20,000 genes .
Your genes are 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.
MTHFR is a gene that provides the body with instructions for making an enzyme called 5-10-methylenetetrahydrofolate reductase , hence the acronym. When you eat foods that contain folic acid (vitamin B9), the MTHFR enzyme converts it into methyl-folate (folate’s active form).
Methyl-folate is critical to methylation. Methylation is a chemical process that transfers a methyl group (of four atoms) from one molecule to another. Think of methylation as flipping an "on" switch to help optimize different processes in the body, from hormone to heart functioning.
The MTHFR enzyme also helps with the process of converting hom*ocysteine into methionine, a crucial protein building block. When you have an MTHFR deficiency, meaning you're deficient in the enzyme, you may have an increased level of hom*ocysteine. When the body cannot break down hom*ocysteine properly and convert it to methionine, they have a condtion called hom*ocystinuria , a genetic disorder.
Each parent passes down one copy of the MTHFR gene to you at conception, so you could have one MTHFR mutation (heterozygous) or two (hom*ozygous).
The MTHFR gene also has two variants (mutation forms).
- C677T
- A1298C
You can inherit no variants, one, both, or two copies of the same variant. The more variations you have, the more issues your body will have with methylating.
What is methylation and why is it important?
Our bodies are incredibly complex machines. Methylation is the process that allows some internal switches (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 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 concerns.
- Alopecia areata
- Anxiety
- Attention deficit hyperactivity disorder (ADHD)
- Autism spectrum disorders
- Autoimmune disease and thyroid issues
- Bipolar disorder
- Blood clots
- Cancer
- Cardiovascular disease
- Chronic fatigue syndrome
- Cognitive impairment (e.g., Alzheimer's and other forms of dementia)
- Colon cancer
- Depression
- Digestive issues , including irritable bowl syndrome (IBS)
- Hearing loss (in older age)
- High blood pressure
- hom*ocystinuria
- Hormonal issues , including polycystic ovary syndrome (PCOS)
- Migraine
- Miscarriage
- Neural tube defects (anencephaly, spina bifida)
- Schizophrenia
Risk factors
The risk factors for having an MTHFR gene mutation include having one or both parents with an MTHFR variant.
The risk factors for various health conditions and symptoms associated with an MTHFR mutation will depend on the specific variant or variants you have and how many copies, one or two.
Generally, having two copies of one variant or one copy of each places someone at an increased risk for some symptoms and health concerns.
Effects of MTHFR mutation on pregnancy
Some MTHFR gene mutations are associated with adverse pregnancy outcomes, such as gestational diabetes, hypertensive disorders, miscarriage, and fetal abnormalities. However, just because you have an MTHFR gene mutation, does not mean you will experience pregnancy complications.
Natural treatments for MTHFR mutation symptoms
Having an MTHFR mutation doesn’t automatically mean you will experience symptoms or health issues. MTHFR gene mutation symptoms also depend on which variant or variants you have and whether the mutation affects 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.
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 a vitamin B12 deficiency. You can supplement vitamin B12 without a prescription, whether as isolated B12 or as part of a multivitamin or B complex vitamin. Always check with your provider what is best for you.
Many animal, fish, and seafood products contain B12. And nutritional yeast is a good source of dietary B12 for vegans and vegetarians. Additional foods that support healthy methylation include asparagus, avocado, broccoli, and legumes.
Support detoxification
Reduced methylation contributes to poor detoxification, so supporting your body’s natural elimination pathways is important.
Tips to improve detoxification
- Eat a high-fiber diet (30 to 50 grams per day).
- Eat anti-inflammatory foods such as fruits and vegetables, well-sourced protein, and healthy fats.
- Move and sweat regularly, at least four to five times per week.
- Stay well hydrated so that you can take advantage of your primary detox mechanisms: urination and defecation.
- Avoid exposure to toxins like chemical house cleaners. They can inhibit methylation and act as endocrine disruptors in the body.
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. High levels of stress may exacerbate MTHFR mutation symptoms.
Tips for decreasing overall stress include starting a regular meditation practice, journaling, spending time in nature, and volunteering. Engage in the activities that help you to unwind, stay grounded, and decompress.
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.
Heal any underlying digestive issues
Healing and supporting your gut is crucial for improving methylation and bringing your body back to optimal overall health. To improve gut health and digestion , consider these dietary changes.
- 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. However, if you have gastrointestinal concerns, such as SIBO, fermented foods can exacerbate symptoms. So you may wish to be tested first before adding these items to your diet.
- Feed the gut microbiome. Butyrate , an anti-inflammatory short-chain fatty acid, helps feed the cells that line the gut and help them heal. You can get butyrate in the form of ghee or coconut oil. However, these foods are higher in saturated fat. Getting your cholesterol levels checked first is a good plan.
- Consume other gut-friendly foods, including bone broth, organic vegetables and fruits rich in prebiotic fiber, flaxseeds, and chia seeds.
What foods to avoid for someone with MTHFR gene mutation
These dietary changes will help you avoid foods that may counteract DNA methylation or cause inflammation. They are beneficial for anyone's health.
Minimize alcohol intake
Alcohol can make MTHFR 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, consume in moderation. Read about some of our best biohacks to help you cut back on your alcohol intake.
Avoid pro-inflammatory food
As much as possible, try to eliminate the following foods, which drive inflammation .
- added sugar
- refined carbohydrates
- ultra-processed foods
- processed seed oils
- red meat
- gluten
When to see a doctor
You should see a doctor if you are experiencing unexplained symptoms or conditions mentioned in this article. Your provider can help you determine if genetic testing is necessary.
Testing for the MTHFR gene mutation
A MTHFR gene mutation test can determine if you have an MTHFR gene mutation or other genetic single nucleotide polymorphism (SNP) variations that may be affecting you.
This can be done with any Parsley Health medical provider and often is covered by insurance. Other tests that can help confirm an MTHFR mutation include hom*ocysteine 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 who will order the correct tests to help get to the root cause of your symptoms and rule out other possible issues.
FAQ
What happens if you have MTHFR?
An MTHFR gene mutation may lead to symptoms, but not everyone with MTHFR will experience concerns.
Is MTHFR a big deal?
In many cases, having an MTHFR gene mutation will not cause any symptoms or issues. However, some variant combinations can put you at an increased risk for health conditions.
How do I know if I have an MTHFR gene mutation?
Your medical provider can order genetic testing to determine if you have an MTHFR gene mutation.
Does MTHFR affect life expectancy?
Having an MTHFR gene mutation doesn't necessarily change your life expectancy. However, some conditions associated with MTHFR, such as cardiovascular disease or certain cancers, may impact how long you live. Lifestyle changes may be able to help.
