MTHFR Mutation Symptoms and Diagnosis

Have you heard about the MTHFR gene mutation? If not, don’t worry…it’s relatively new, and it’s mostly just cutting edge functional medicine and anti-aging physicians who talk about it.

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, although not all, changes in how this enzyme works can affect health parameters, including cholesterol levels, brain function, digestion, endocrine functions and more.

MTHFR MUTATION SYMPTOMS AND SIGNS

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

  • Autism and other childhood learning developmental problems
  • ADHD
  • Depression and anxiety
  • Spina bifida
  • Schizophrenia
  • Bipolar disorder
  • Autoimmune disorders and thyroid disorders
  • Addictions (alcohol and drug dependence for example)
  • Chronic pain disorders
  • Migranes 
  • 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 Alzheimers Disease 
  • Strokes
  • Digestive problems, including irritable bowel syndrome
  • Problems during pregnancy, including preeclampsia and postpartum depression

The severity and type of symptoms that someone experiences depends on the variant or type 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. Others experience much less drastic drops in enzyme levels, around 10 percent to 30 percent.

NATURAL TREATMENTS FOR MTHFR MUTATION SYMPTOMS

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

Acquiring more folate (not folic acid, which is synthetic vitamin B9) can help with methylation. Getting more folate is very different than taking folic acid supplements, however. Some research even suggests that people with MTHFR mutations might have a harder time converting folic acid into its useable 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 bioavailable 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 b 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.

To improve digestive/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, flaxseeds 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

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: 

  • 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

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:

  • Consuming fresh vegetable juices to increase antioxidant intake
  • Taking activated charcoal
  • Drinking plenty of water and avoiding alcohol or tobacco
  • Taking detox baths
  • Exercising regularly
  • Sitting in infrared saunas
  • 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
  • Read something soothing
  • Cool your bedroom a bit

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? 

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 syndrome and hormone level testing.

Contact Foundations Medical Center at 850.269.9000 for further information or to schedule your New Patient consultation with Dr. Chavers.