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What the MTHFR? Part 2: Signs and Symptoms of MTHFR Gene Mutation

The MTHFR gene mutation is a common genetic variant that can cause a number of health conditions, including birth defects, neurological disorders, and some cancers. MTHFR adds a methyl group to folic acid, making it usable by the body.

An estimated 50 percent of the population has some type of MTHFR mutation (at least 40 variants of the gene have been identified through genetic testing). Are you among the 50 percent?

A genetic mutation, combined with the influence of methylation and environmental elements can cause a number of symptoms, often varying from one person to the next. Number and type of mutations and quality of one’s diet can affect symptoms—and symptoms can affect every system in the body.

There are essentially three main categories of symptoms of MTHFR or health problems you might encounter with a MTHFR mutation: cardiovascular health, neurologic health and systemic intoxication (increased toxic burden).

Cardiovascular – Elevated homocysteine levels due to decreased methylation is related to risk of stroke, heart attack, frequent miscarriages, congenital birth defects, and anemia.

Neurologic – Decreased methylation of homocysteine leads to decreased production of dopamine, serotonin, and norepinephrine, which are hormones that affect mood. Neurologic conditions that may be caused by an MTHFR mutation include: depression, alcoholism, aggression, Autism, fibromyalgia, bipolar disorder, Obsessive Compulsive Disorder, Alzheimer’s disease, Dementia, and chronic fatigue syndrome.

Systemic Intoxication – The build up of toxic metabolites in the body causes damage to the liver, skin, kidneys, colon, and lungs. This may cause conditions including: nausea, diarrhea, hair loss, rashes, rapid heart rate, high blood pressure, pulmonary fibrosis, immune dysfunction, kidney and liver dysfunction, colon cancer, and more.

In our next blog, we’ll look at how to test for an MTHFR mutation.

Betty Murray, CN, IFMCP, CHC is a Certified Nutritionist & Certified Functional Medicine Practitioner with the Institute for Functional Medicine, founder of the Dallas-based functional medicine clinic Living Well Dallas and Executive Director of the the Functional Medicine Association of North Texas. A master of the biochemistry of the body, Betty teaches her clients how to utilize nutrition for autoimmune diseases, digestive disorders, MTHFR and weight loss. You can find her book “Cleanse: Detox Your Body, Mind & Spirit” on Amazon here.

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