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MTHFR – What is it? How to diagnose it? Natural remedies to help it.

MTHFR - What is it? How to diagnose it? Natural remedies to help it.

Greetings friends. MTHFR is a problem for many people and is the underlying cause to many chronic health issues that are seen in natural health care. For people suffering from this condition life can get pretty difficult. MTHFR is often misunderstood and more often than not it is missed as the problem behind other diagnoses. An MTHFR mutation is a problem associated with poor methylation and enzyme production. MTHFR mutations affect every person differently, sometimes contributing to hardly any noticeable symptoms at all, while other times leading to serious, long-term health problems. Although the exactly how prevalent this disorder is unknown and currently is still up for debate. It’s believed that up to 30 percent to 50 percent of all people may carry a mutation in the MTHFR gene which is inherited and passed down from parent to child.  Around 14 percent to 20 percent of the population may have a more severe MTHFR mutation that impacts overall health more noticeably. The MTHFR gene mutation discovery occurred during the completion of the Human Genome Project. Researchers realized that people with this type of inherited mutation had a tendency to develop certain diseases such as ADHD, Alzheimer’s, atherosclerosis, autoimmune disorders and autism more often than those without the mutation. There is still a lot left to learn about what this type of mutation means for people who carry it and go on to pass it along to their offspring. 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.” To date, there have been dozens of different health conditions linked to MTHFR mutations, although just because someone inherits this mutation doesn’t necessarily mean that person will wind up with health problems.

What Is an 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. “MTHFR” is the shortened name for this particular enzyme. 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 are 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. An MTHFR gene mutation can change the way some people metabolize and convert important nutrients from their diets into active vitamins, minerals and proteins. Genetic mutations can also alter neurotransmitter and hormone levels. In some cases but not not all, changes in how this enzyme works can affect health aspects including cholesterol levels, brain function, digestion, endocrine functions and more. This is a very important enzyme in many physiological systems.

MTHFR Mutation – Some Common Symptoms and Signs

Although researchers still aren’t entirely sure which diseases and disorders an MTHRF mutation might contribute to most, evidence does exist that the following health conditions are linked to one of two primary forms of genetic MTHFR mutation:

  • Autism and other childhood learning developmental problems
  • ADHD
  • Down syndrome
  • Depression and anxiety
  • Spina bifida
  • Schizophrenia
  • Bipolar disorder
  • Autoimmune disorders and thyroid disorders
  • Addictions (alcohol and drug dependence for example)
  • Chronic pain disorders
  • Migraines
  • Heart problems, including low HDL “good” cholesterol levels and high homocysteine levels
  • Hormonal problems and fertility problems, including miscarriages and PCOS
  • Pulmonary embolisms
  • Fibromyalgia
  • Diabetes
  • Chronic fatigue syndrome
  • Parkinson’s disease, other tremor disorders and Alzheimer’s disease
  • Strokes
  • Digestive problems, including irritable bowel syndrome
  • Problems during pregnancy, including preeclampsia and postpartum depression

The severity and type of symptoms that someone has depends on the variant of the mutation the person has, along with how much the ability to carry out methylation and make MTHFR enzymes is impacted. Some people produce up to 70 percent to 90 percent fewer enzymes than those without MTHFR mutations. Other experience much less drastic drops in enzyme levels, around 10 percent to 30 percent.

Causes and Risk Factors of MTHFR Mutation

The main reason that MTHFR mutations cause health problems is due to disturbing the normal process of methylation. 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:

  • 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.
  • Forms proteins by converting amino acids (often called “the building blocks of proteins,” which we mostly obtain 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.
  • Methylation is also tied to natural detoxification because it helps eliminate heavy metals and toxins through the GI tract in a timely and effective manner.
  • Methylation also helps with the production of various neurotransmitters and hormones, including serotonin. Deficiencies in these neurotransmitters can affect things like your mood, motivation, sleep, sex drive, appetite and digestive functions. Abnormal levels of neurotransmitters are tied to ADHD, depression, anxiety, IBS and insomnia.

In order for methylation to take place properly, the body requires the presence of a certain active amino acid called S-Adenosylmethionine or SAMe. SAMe helps regulate more than 200 different enzyme interactions, and without it methylation stops. Whether you carry the MTHFR C677T or MTHFR A1298C mutation determines if you’re more likely to suffer from certain diseases than others. 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. MTHFR A1298C are linked 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.
Someone can either have a heterozygous MTHFR mutation (from one parent) or a homozygous mutation (from both parents). Those with homozygous mutations tend to have more severe symptoms and health problems due to having lower methylation and enzyme production.

Testing and Diagnosing MTHFR Mutations

Many people have no idea that they carry an MTHFR mutation gene that contributes to their symptoms. How can you know if you’re carrying one of several common MTHFR mutations? Simple, 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. Because it’s a problem related to an inherited gene, there is no way to “cure” an MTHFR mutation and this is important to acknowledge. However certain lifestyle changes and natural treatments can help manage symptoms and make complications less likely. Natural treatments for methylation problems depend on your specific symptoms and condition. The steps below may help reduce symptoms caused by disorders related to MTHFR mutations.

Natural Treatments for MTHFR Mutation Symptoms

1. Consume More Natural Folate, Vitamin B6 and Vitamin B12 – Acquiring more folate (not folic acid, which is a synthetic vitamin B9) can help with methylation. Getting more folate is very different than taking folic acid supplements and this must be pointed out. Some research even suggests that people with MTHFR mutations might have a harder time converting folic acid into its usable form and actually experience worsened 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 bio available form of folate in supplements called l-methylfolate and consume plenty of foods with folate. Having more folate in your diet means you’re better able to create the active form of 5-MTHF. Some of the best high-folate foods include:

  • Beans and lentils
  • Leafy green vegetables like raw spinach
  • Asparagus
  • Romaine
  • Broccoli
  • Avocado
  • Bright-colored fruits, such as 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 the preferred way. 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. To improve general digestive and gut health, the following dietary adjustments can be very beneficial:

  • Reduce intake of inflammatory foods, such as gluten, added sugar, preservatives, synthetic chemicals, processed meats, conventional dairy, refined vegetable oils, trans fats and processed/enriched grains (which often include synthetic folic acid).
  • Increase intake of probiotic foods, which are fermented and supply “good bacteria” that aids in digestion.
  • Consume other gut-friendly foods, including bone broth, organic vegetables and fruit, flax seeds and chia seeds, and fresh vegetable juices.
  • Focus on consuming healthy fats only, like coconut oil or milk, olive oil, grass-fed meat, wild-caught fish, nuts, seeds, and avocado.

3. Reduce Anxiety and Depression – Because of how it can negatively affect levels of neurotransmitters and hormones like serotonin, testosterone and estrogen, MTHFR mutations are tied to higher incidences of mental disorders, including anxiety, depression, bipolar disorder, schizophrenia and chronic fatigue. High levels of stress can also make MTHFR mutation symptoms even worse. Tips for dealing with these conditions include:

  • Supplementing with omega-3 fatty acids: Help to reduce inflammation and are beneficial for cognitive health.
  • Regularly practicing natural stress relievers: These include meditation, journaling, spending time outside, giving back or volunteering, praying, etc.
  • Regularly exercising: Helps to improve hormonal balance and sleep quality.
  • Using soothing essential oils, including lavender, chamomile, geranium, clary sage and rose.
  • Eliminating use of recreational drugs and reducing alcohol intake, which can both make symptoms worse by interfering with methylation.

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. Other tips for keeping your heart healthy include:

  • Eating a healthy diet, especially one with plenty of high-fiber foods
  • Getting regular exercise and keeping your weight in a healthy range
  • Managing stress to prevent worsened inflammation
  • Consider taking the following supplements, which can help improve blood flow, cholesterol and blood pressure: magnesium, omega-3s, CoQ10, carotenoids and other antioxidants, selenium, and vitamins C, D and E.

5. Discuss Your Medications with a Doctor – Unfortunately some pharmaceutical medications can further deplete already existing low folate levels or interfere with methylation. Speak with your doctor if you take any of the following drugs on a regular basis as these may might make symptoms worse:

  • Antibiotics
  • Birth control pills
  • Hormone replacement therapy drugs
  • Anticonvulsants (like phenytoin and carbamazepine)
  • Antacids
  • NSAID pain relievers
  • Antidepressants
  • Chemotherapy treatments
  • Cholesterol-lowering drugs (like acid sequestrants, cholestyramine, colestipol and colesevelam)

6. Boost Detoxification – Reduced methylation contributes to poor elimination of heavy metals and toxins so take extra steps to help flush waste and accumulated chemicals from your body. Tips for improving your ability to detox include:

  • Consuming fresh vegetable juices to increase antioxidant intake
  • Taking activated charcoal
  • Drinking plenty of water and avoiding alcohol or tobacco
  • Dry brushing
  • Taking detox baths
  • Exercising regularly
  • Sitting in saunas
  • Occasionally fasting in a healthy way or using natural enemas
  • 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:

  • Create a relaxing bedtime routine
  • Use essential oils
  • Stay off of electronic devices (Blue light)
  • Read something soothing
  • Calming nervine teas like Chamomile

Well I hope this information has helped you to understand this condition a little more clearly. If you suspect that MTHFR is a possible under lying cause of your health issues then I would encourage you to speak to your health professional and request testing to either confirm or dismiss this. This test, MTHFR Gene Mutation, is offered at my Natural Health Business through Nutripath Functional Pathology Laboratories along with other accompanying tests that are often required along with it.

Until next time, be well, naturally.

Craig Hitchens – Natural Health Practitioner & Remedial Therapist



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The information contained in this article is accurate at the time of posting but may change thereafter. The information provided on the various natural health subjects from this website of is for informational purposes only and should not be considered as any form of medical advice. The information in the article this disclaimer is linked from is not meant to treat, diagnose, prescribe or cure any ailment. Always check with your health professional before taking any products or following any advice that you believe may conflict with other forms of health care. Always consult your health care professional before you start, stop or change anything that has been previously prescribed. Certain herbs and holistic remedies are unsuitable to take if you are pregnant or nursing and must always be cleared by your health professional before use.

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