MTHFR Mutations

MTHFR is a gene that provides the body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase. There are two main MTHFR mutations: C677T and A1298C. Mutations can occur on different locations of these genes and be inherited from 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 mutation can change the way a person metabolizes and converts important nutrients from their diets into active vitamins, minerals and proteins. In some cases, although not all, changes in how this enzyme works can affect cholesterol levels, brain function, digestion, endocrine functions and more.

MTHFR mutations affect people differently. It is believed that 30-50% of all people may carry a mutation in the MTHFR gene. Around 14-20% of that population have severe effects that impact overall health more drastically. People with this mutation tend to develop certain diseases, including ADHD, Alzheimer’s, atherosclerosis autoimmune disorders, 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. To date, there have been dozens of different health conditions tied to MTHFR mutations, although just because someone inherits this mutation does not mean that person will wind up experiencing any problems.

Treating MTHFR Symptoms

Consume More Natural Folate, Vitamin B6 and Vitamin B12

People with MTHFR mutations have a harder time converting folic acid into its useable form and actually experience worsened symptoms from taking supplements containing folic acid. Look for the bioavailable form of folate in supplements (called L-methylfolate) and consume plenty of foods with folate. Some 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

People with a MTHFR mutation are also more likely to be low in vitamins B6 and B12.  You can get these vitamins from supplements or food sources. To get more B vitamins, focus on eating quality protein foods, organ meats, nuts, beans, nutritional yeast and raw/fermented dairy products.

Treat Digestive Problems, Like Leaky Gut and IBS

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

To improve digestive/gut health, the following dietary changes can be 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 supply ‘good bacteria’ that aids in digestion.
• Consume gut-friendly foods, including bone broth, organic vegetables and fruit, flaxseeds and chia seeds, and fresh vegetable juices.
• Consume health fats only, like coconut oil or milk, olive oil, grass-fed meat, wild-caught fish, nuts, seeds, and avocado.

Reduce Anxiety and Depression

MTHFR mutations are tied to higher incidences of mental disorders, including anxiety, depression, bipolar disorder, schizophrenia and chronic fatigue. High levels of stress can make MTHFR mutation symptoms even worse. Tips for dealing with these conditions include:

• Supplement with omega-3 fatty acids: reduces inflammation and beneficial for cognitive health
• Practice natural stress relievers: meditation, journaling, spending time outside, giving back or volunteering, praying, etc.
• Regular exercise
• Use soothing essential oils, including lavender, chamomile, geranium, clary sage and rose
• Eliminate recreational drugs and reducing alcohol intake

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 the following supplements, which can help improve blood flow, cholesterol and blood pressure: magnesium, omega-3s, CoQ10, caretenoids and other antioxidants, selenium, and vitamins C, D and E.

Discuss Your Medications With Your Doctor

Some medications can deplete folate levels or interfere with methylation. The following medication classes might make symptoms worse:

• Antibiotics
• Birth control pills
• Hormone replacement therapy drugs
• Anticonvulsants (like phenytoin and carbamazepine)
• Antacids
• NSAIDs
• Antidepressants
• Chemotherapy treatments
• Cholesterol-lowering drugs

Boost Detoxification

Because reduced methylation contributes to poor elimination of heavy metals and toxins, take extra steps to help flush waste and accumulated chemicals from your body. Tips for improving your ability to detox include:

• Consume fresh vegetable juices to increase antioxidant intake
• Takie activated charcoal
• Drink plenty of water and avoiding alcohol or tobacco
• Dry brushing
• Take detox baths
• Exercise regularly
• Use of saunas
• Occasionally fast in a healthy way or use natural enemas
• Only use natural beauty and household products that are free from chemicals

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 7-9 hours of sleep 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
• Read something soothing
• Cool your bedroom a bit

MTHFR Mutation Symptoms and Signs

Evidence exists that the following health problems are tied to one of two primary forms of genetic MTHFR mutation:

• ADHD
• Autism and other childhood learning developmental problems
• 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
• Stroke
• Digestive problems, including irritable bowel syndrome
• Problems during pregnancy, including pre-eclampsia and postpartum depression. The severity and type of symptoms depends on the variant of the mutation, along with much how the ability to carry out methylation and make MTHFR enzymes is impacted.

Causes and Risk Factors of MTHFR Mutation

The main reason that MTHFR mutations cause health problems is due to disruptions in the normal process of methylation. Under normal circumstances, MTHFR:

• Facilitates 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.
• Converts the amino acid homocysteine into 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 folate (also called vitamin B9). This is done by converting one form of the methylenetetrahydrofolate molecule into another active form called 5-methyltetrahydrofolate. Folate/vitamin B9 is required for numerous critical bodily functions, so the inability for the body to make and use enough can affect everything from cognitive health to digestion.
• Methylation is also tied to detoxification because it helps eliminate heavy metals and toxins through the GI tract.
• Methylation also helps with the production of neurotransmitters and hormones. Deficiencies in these neurotransmitters can affects things like 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, the body requires an amino acid called 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 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.

Testing and Diagnosing MTHFR Mutations

Many people have no idea that they carry an MTHFR mutation gene that contributes to their symptoms. If you suspect you might be affected by an MTHFR mutation, consider having a genetic test performed. Other tests that can help confirm a mutation include heavy metal tests, urine tests, homocysteine level tests, folic acid tests, leaky gut testing and hormone level testing.

Because it is a problem related to an inherited gene, there is no way to ‘cure’ an MTHFR mutation — however lifestyle changes and natural treatments can help manage symptoms.

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