By Dyvette Warren, PA-C

Edited by Mila McManus MD

Beginning in the womb, and throughout your life, your personal health and happiness, mental capabilities, and propensity for disease are heavily influenced by genetic as well as non-genetic factors, including DNA mutations, nutrition, exposure to microorganisms and toxins, stress, and other environmental conditions.

If you suffer with, or have a history of, migraines, depression, insomnia, anxiety, Alzheimer’s, chemical sensitivities, arthritis, pain, IBS(irritable bowel syndrome), heart disease, stroke, DVT(deep venous thrombosis, ie: blood clot), pulmonary embolism(blood clot in the lungs), side effects with hormones (e.g., birth control pills), miscarriages, autism, birth defects, failure to thrive, anemia, epilepsy, psychosis, ADD/ADHD, seizures, or take prescription medication, particularly those for cancer and autoimmune disorders, we highly recommend that you get tested for an MTHFR gene mutation. This is a piece of the healthcare puzzle that can be treated.

What does the MTHFR gene do?

MTHFR gene provides instruction for making an enzyme called methyl tetrahydrofolate reductase. This enzyme helps amino acids form proteins and influences detoxification efficiency and production of neurotransmitters. A mutated MTHFR gene produces defective enzymes that may perform only 20% – 70% as well as the non-mutated version, depending on the type of mutation.

You ability to effectively break down toxins and eliminate heavy metals, including copper, will be limited. High copper levels deplete zinc levels which can be related to ADHD, depression, headaches, acne, frequent colds, worsening thyroid function, sensitive skin, easy bruising, adrenal stress and more. High copper levels also make it difficult to raise iron levels. Supplementing with Vitamin C and Zinc can help to detoxify and reduce copper levels. Consult with your functional medicine specialist before starting supplements.

A high homocysteine level may develop with an MTHFR mutation, thereby increasing your risk for heart disease, blood clots, stroke, elevated blood pressure, dementia, psychosis, and seizures. A thorough history, along with MTHFR testing, is recommended if you have a high homocysteine level or a history of any of the above listed diseases.

With MTHFR mutation, homocysteine has a difficult time converting to glutathione, the body’s main detoxifier and antioxidant. This contributes to a buildup of toxins and heavy metals in the body.

Also with MTHFR mutation, your body will have reduced capability of converting the inactive forms of folate (folic acid) and B12(cobalamin) into active forms called methyl-folate and methyl-cobalamin.

The Journal of Molecular Psychiatry states that, “Schizophrenia-like syndromes, Bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more of the mutations of the MTHFR gene”.

It is likely that MTHFR DNA variation may affect the response to many different medications that affect brain function. Long term use of methotrexate, for example, is associated with elevated homocysteine levels and methotrexate toxicity in patients with MTHFR mutation. We recommend knowing your MTHFR status prior to starting any type of chemotherapy. Chemotherapy neurotoxicity is highly associated with MTHFR mutation. Proper supplementation and future treatment options will need to be discussed with your functional medicine specialist and oncologist once your MTHFR status is known.

Treatment

Although you can’t change this defective gene, you can help it do its job more effectively.

Repairing your digestive system, including optimizing your gut flora (ie blend of microbes in your gut), should be the first step in improving your health.

Methyl-cobalamin and methyl-folate are additional treatment which will be used by your body for detoxing. You may need to start with a low dose to avoid detox effects such as fatigue, muscle pain, headache, anxiety, insomnia, irritability, achiness, etc. Always consult with a functional medicine specialist prior to starting therapy. Click here to read about Active B-Complex by Prothera.

Avoid toxins, including those absorbed through the skin. Look at household cleaning supplies and wear gloves when using chemicals for cleaning. Check your lotions, soaps and deodorants. Use aluminum free deodorants, and use soaps and lotions with the fewest ingredients. We are now offering Pure & Simple Bar soap at our TWIHW facility and it’s just that! You can also visit http://www.ewg.org/skindeep/ which is a database where you can discover what toxic chemicals are in your cosmetics, lotions, and sunscreen products.

Eat healthfully and organic when possible, avoid processed food, don’t smoke, and limit alcohol intake. These measures will help to decrease toxins in the body and will leave the methylation cycle free for other important functions.

There are more than 40 different MTHFR mutations that can be passed down from your mother and/or father. Only two of these are known to be particularly problematic: C677T and A1298C. You might also hear the words homozygous and heterozygous when discussing MTHFR mutations. Homozygous means that you inherited a mutation from your mother AND your father and, therefore, have both copies of the defective gene. Heterozygous means that you inherited the mutation from either your mother or your father and, therefore, have only one copy of the defective gene. If you already know that you have an MTHFR gene mutation, consider having your children’s status tested.

MTHFR testing is offered several ways at our facility (prices are subject to change):

• Saliva test kit that you do yourself at home and mail into the lab. This test is $125 and tests for C677T and the A1298C mutations as well as for another mutation called COMT which is also associated with mood disorders and dementia.
• Add-on test at Spectracell Laboratories when ordering a nutrient analysis. The add-on price is $40 and tests for C677T and A1298C.
• MTHFR can also be ordered through Quest lab who will attempt to bill your insurance; however, we’ve found that many insurance companies will not cover the test and this would result in Quest billing you, the patient, ~$400.