Mthfr Mutation Symptoms, Diagnoses & Natural Remedies | How To Know If You Have An Mthfr Mutation?

Mthfr Mutation Symptoms, Diagnoses & Natural Remedies | How To Know If You Have An Mthfr Mutation?

The information in our articles is not intended to replace a one-on-one relationship with a qualified health care professional, and is not intended as medical advice.

Our team includes certified strength and conditioning specialists, personal trainers, corrective exercise specialists and licensed nutritionists. Our team wants to be thorough with its research, but also objective and unbiased.

The article was written by experts and fact checked by our editorial staff. There are links to medically peer-reviewed studies in the numbers in parentheses.

The information in our articles is not intended to replace a one-on-one relationship with a qualified health care professional, and is not intended as medical advice.

We only link to academic research institutions,Reputable media sites and medically peer-reviewed studies when the research is available. Clicking on the numbers in parentheses will take you to the studies.

MTHFR mutation - Dr. Axe

Poor production of genes is associated with an MTHFR variation. Every person is affected differently by MTHFR, sometimes contributing to hardly any noticeable symptoms at all, while other times leading to serious, long-term health problems.

Although the exact prevalence rate is still up for debate, it’s believed that up to 30 percent to 50 percent of all people might carry a mutation in the MTHFR gene, which is inherited and passed down from parent to child. (1) Around 14 percent to 20 percent of the population might have a more severe MTHFR mutation that impacts overall health more drastically.

The MTHFR gene mutation was discovered during the completion of the Human Genome Project. Researchers realized that people with this type of inherited mutation tended to develop certain diseases, including ADHD, Alzheimer’s, atherosclerosis, autoimmune disorders and autism more often than those without the mutation.

There is still a lot to learn about what this type of mutation means for people who carry it and go on to pass it along to their children. As the website states, “Research is still pending on which medical conditions are caused by, or at least partially attributed to, the MTHFR gene mutations.” (2)

There have been dozens of different health conditions tied to MTHFR, but just because someone has it doesn’t mean they won’t have any problems.

What Is a MTHFR Mutation?

According to the Genetics Home Reference Library, MTHFR is a gene that provides the body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase. In fact, “MTHFR” is the shortened name for this enzyme. (3)

There are two main MTHFR mutations that researchers focus on most often. These mutations are often called “polymorphisms” and affect genes referred to as MTHFR C677T and MTHFR A1298C. Mutations can occur on different locations of these genes and be inherited from only one or both parents. Having one mutated allele is associated with increased risk of certain health problems, but having two increases the risk much more.

Some people can change the way they metabolize and convert important vitamins from their diet into active vitamins, minerals and proteins with a MTHFR genemutation. Alterations of neurotransmitter and hormone levels can be caused by genetic alterations. In some cases, changes in how this enzyme works can affect health parameters, including cholesterol levels, brain function, digestion, and more.

Natural Treatments

1. Consume More Natural Folate, Vitamin B6 and Vitamin B12

Acquiring more Folate can help with methylation. Folate getting is different than taking supplements of sciency-causing sciency-causing sciency-causing sciency-causing sciency-causing sciency-causing sciency-causing sciency-causing sciency-causing sciency- Some research suggests that people with MTHFR might have a harder time converting synthetic B9 into its usable form and actually experience worse symptoms from taking supplements containing folic acid.

Getting enough folate is especially important before and during pregnancy. The period three months before conception and during the first trimester of pregnancy, mothers who get enough folate lower their children’s risk for various health problems. Look for the bioavailable forms of folate in supplements called l-methylfolate or fermented folic acid, which are both processed by the body more like folate, and consume plenty of foods with folate.

L-methylfolate is harder to pack into capsule form, so you may not be able to get very high doses in typical multivitamins or supplement blends — that’s why I recommend taking supplements with fermented folic acid, which is biotransformed into whole-food form by friendly yeast.

Having more folate in your diet means you’re better able to create the active form of 5-MTHF. (4) Some of the best high-folate foods include:

  • Beans and lentils
  • Green vegetables that are raw are leafy green vegetables.
  • Asparagus
  • Romaine
  • Broccoli
  • Avocado
  • Fruits with bright colors include oranges and mangoes.

Those with a MTHFR mutation are also more likely to be low in related vitamins, including vitamin B6 and vitamin B12. These are easier to obtain from supplements, but food sources are always best. To get more B vitamins, focus on eating enough quality protein foods, organ meats, nuts, beans, nutritional yeast and raw/fermented dairy products.

2. Treat Digestive Problems, Including Leaky Gut and IBS

Digestive complaints are common among people with MTHFR A1298C mutations. Many things affect digestive health, including nutrient intake, inflammation levels, allergies, neurotransmitter levels and hormone levels. For people who are already prone to nutrient deficiencies, leaky gut syndrome can make problems worse by interfering with normal absorption and raising inflammation.

The following changes to diet can be very beneficial for your gut health.

  • Inflammation can be mitigated by reducing the intake of inflammatory foods, such as wheat, added sugar, synthetic chemicals, processed meats, conventional dairy, refined vegetable oils, trans fats and processed/enriched grains.
  • Increase intake of foods that are good for your body.
  • Other gut-friendly foods include bone broth, organic vegetables and fruit, flaxseeds and chia seeds, and fresh vegetable juices.
  • You should only consume healthy fats, like coconut oil or milk, olive oil, grass-fed meat, wild-caught fish, nuts, seeds, and avocados.

3. Reduce Anxiety and Depression

Mental disorders like anxiety, depression, and schizophrenia are linked to higher incidences of MTHFR mutations because of how it can negatively affect levels of neurotransmitters and hormones. High levels of stress can make MTHFR symptoms worse. The tips for dealing with these conditions are listed.

  • Inflammation and cognitive health can be improved with the addition of Omega 3 fatty acids.
  • Spending time outside, meditating, volunteering, praying, and giving back are some of the natural stress relief activities that are practiced regularly.
  • It helps to improve sleep quality by regularly exercising.
  • Using essential oils that are relaxing include lavender, chamomile, geranium, and rose.
  • Eliminating use of recreational drugs and reducing alcohol intake, which can both make symptoms worse by interfering with methylation. (5)

4. Protect Heart Health

Studies show that homocysteine levels tend to rise with age, smoking and use of certain drugs, so the first step is to focus on taking care of yourself as you get older and limiting use of harmful substances. (6) Other tips for keeping your heart healthy include:

  • A healthy diet is one with lots of high-fiber foods.
  • Keeping your weight in a healthy range by getting regular exercise.
  • Managing stress to prevent inflammation made it worse.
  • The following supplements can help improve blood flow, cholesterol and blood pressure: magnesium, Omega 3s, CoQ10, Carotenoids and other vitamins C, D and E.

MTHFR mutation natural treatments - Dr. Axe

5. Discuss Your Medications with a Doctor

Some medications can further deplete already low folate levels or interfere with methylation. Speak with your doctor if you take any of the following drugs, which might make symptoms worse: (7)

  • Antibiotics that contain sulfa include Sulfamethoxazole, trimethoprim, sulfasalazine, and triamterene.
  • Birth control pills
  • The drugs used for hormones therapy.
  • There are anticonvulsants like phenytoin and carbamazepine.
  • Antacids and acid blockers are used.
  • NSAID pain relievers
  • Antidepressants
  • There are treatments for Chemotherapy.
  • Cholesterol-lowering drugs include niacin, acid sequestrants, cholestyramine, colestipol, and colesevelam.
  • During dental work, nitrous oxide can be found.
  • There is a drug called ometrexate forheumatoid arthritis.
  • Metformin is used for people with diabetes and polycystic ovarian syndrome.

6. Boost Detoxification

Taking extra steps to flush waste and accumulate chemicals from your body will help eliminate heavy metals and toxins from your body. There are tips for improving your ability to get rid of toxins.

  • Consuming fresh vegetable juices increases the amount of anti-oxidants in the body.
  • Taking activated charcoal
  • Don’t drink alcohol or tobacco, and drink plenty of water.
  • Dry brushing
  • Taking detox baths
  • Exercising regularly
  • Sitting in saunas
  • Occasionally, you can use natural enemas or fast in a healthy way.
  • Only using natural beauty and household products that are free from harsh chemicals.

7. Get Enough Quality Sleep

Sleep disturbances are common among people with anxiety, hormonal disorders, autoimmune disorders, chronic pain and fatigue. Make it a priority to get seven to nine hours every night, sticking to a regular schedule as much as possible. To help you get better sleep, try natural sleep aids like:

  • It’s possible to create a relaxing nighttime routine.
  • Use essential oils
  • Stay away from electronic devices.
  • Read something that is relaxing.
  • Make your bedroom very difficult by cooling it a bit.

Symptoms and Signs

The following health problems are tied to one of two primary forms of genetic MTHFR mutation, and researchers still aren’t sure which diseases and disorders an MTHRF mutation might contribute to most.

  • Autism and other childhood learning developmental problems
  • ADHD
  • Down syndrome
  • Depression and anxiety are related.
  • Spina bifida
  • Schizophrenia
  • Bipolar disorder
  • Thyroid disorders and autoimmune disorders are related.
  • Alcohol and drug dependence are examples of addictions.
  • There are chronic pain disorders.
  • Migraines
  • There are problems with the heart, including high homocysteine levels and low good cholesterol levels.
  • Hormonal problems and fertility problems are included.
  • Pulmonary embolisms
  • Fibromyalgia
  • Diabetes
  • Chronic fatigue syndrome is a condition.
  • Parkinson’s disease, other tremor disorders and Alzheimer’s disease
  • None
  • Irritable bowel syndrome is one of the causes of irritative bowel syndrome.
  • Problems during pregnancy, including preeclampsia and postpartum depression

The severity and type of symptoms that someone experiences depends on the variant of the mutation the person has, as well as how the ability to carry out methylation and make MTHFR enzymes is impacted. Some people produce less enzymes than others with the same genes. The drops in the levels of the enzyme are less dramatic than other experiences.

Causes and Risk Factors

The main cause of health problems is due to the normal process of methylation being disturbed.

To understand why this mutation can raise your risk for common disorders, it helps to first understand the important roles that methylenetetrahydrofolate reductase normally plays. MTHFR normally: (8)

  • Facilitates the process called methylation, which is a metabolic process that switches genes on and off and repairs DNA. Methylation also affects nutrient conversions through enzyme interactions.
  • The building blocks of proteins are often obtained from foods.
  • Converts the amino acid called homocysteine into another amino acid called methionine. This helps keep cholesterol levels balanced and is important for cardiovascular health. Elevated homocysteine levels put someone at a greater risk for heart attacks, strokes and other problems.
  • Carries out chemical reactions that help the body process the vitamin folate (also called vitamin B9). This is done by converting one form of the methylenetetrahydrofolate molecule into another active form called 5-methyltetrahydrofolate (or 5-MTFH for short). Folate/vitamin B9 is required for numerous critical bodily functions, so the inability for the body to make and use enough — or a folate deficiency — can affect everything from cognitive health to digestion.
  • It helps eliminate heavy metals and toxins through the GI tract in a timely manner, which is tied to the link between metabolism and natural detoxification.
  • The production of various neurotransmitters and hormones can be helped by the use of methylation. Mood, motivation, sleep, sex drive, appetite, and digestive functions can be affected by deficiencies in these neurotransmitters. Abnormal levels of neurotransmitters are associated with a number of disorders.
  • The body requires the presence of a certain active amino acid in order for it to be able to take place. SAMe helps regulate more than 200 different interactions of the same enzyme.

Whether you carry the MTHFR C677T or MTHFR A1298C mutation determines if you’re more likely to suffer from certain diseases than others. (9)

  • MTHFR C677T mutations are tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages and neural tube defects. Some studies suggest that people with two C677T gene mutations have about a 16 percent higher chance of developing coronary heart disease compared to people without these mutations. (10)
  • MTHFR A1298C are tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia and mood-related problems. This is especially true if you’ve inherited the mutation from both parents or have both forms of MTHFR mutations. (11)

A person can either have a single MTHFRmutation from one parent or a multiple MTHFRmutation from both parents. There are more severe symptoms and health problems for people with homozygous mutations.

Testing and Diagnosing

Many people don’t know that they carry a MTHFR gene that contributes to their symptoms. How can you tell if you are carrying a MTHFRmutation?

If you suspect you might be affected by an MTHFR mutation, consider having a genetic test performed, which is a simple blood test that can confirm your suspicions. This type of test isn’t routinely ordered by doctors but might be recommended if someone has high homocysteine levels or a family history of heart complications. Other tests that can help confirm a mutation include heavy metal tests, urine tests, homocysteine level tests, folic acid tests, leaky gut test and hormone level testing.

Certain lifestyle changes and natural treatments can help manage symptoms and make it less likely that you will get an MTHFR mutation, because there is no way to cure it. Natural treatments for methylation problems are dependent on your symptoms and condition. There are steps that can help reduce the symptoms of disorders related to MTHFR.


The MTHFR is a genetic and inherited problem. Problems from amutation are not guaranteed. If you have a family history of one or more of the above illnesses, it is advisable to speak with your medical provider about having a test for an MTHFR mutation.

There are other types of genetic variations that are capable of changing the way that methylation is carried out or the way that homocysteine is converted. It’s difficult to research disorders related to this genetic abnormality. Get confirmation through testing and discuss the results with your doctor before assuming that MTHFR is the cause of your symptoms. If you receive advice that seems unsafe, you should get a second opinion.

Final Thoughts

  • MTHFR is caused by inheriting one or more genes that interfere with the normal process of methylation, folate conversion and enzyme production.
  • There are a number of health conditions associated with the MTHFR mutations.
  • Eating a poor diet, high amounts of stress, alcohol and drug use, and toxin exposure are some of the factors that can make the symptoms of the MTHFR mutation worse.
  • Improving gut health, getting more natural folate from your diet, exercising, lowering intake of inflammatory foods, and managing stress are some of the natural treatments and ways to manage MTHFR symptoms.

Read Next: Vitamin B12 Benefits That You’re Probably Missing

Leave a Reply