What Piece do your Genes Play in your Chronic Disease?

By Dr. Mary Frazel, N.D.

Marie struggled with infertility for three years before coming in for a naturopathic consult with me. As part of doing a thorough infertility workup I tested her for the MTHFR gene. She was positive.

Bill was a fit athletic 48-year-old man who came for a naturopathic consult for his high cholesterol. He didn't want to take Statin drug medications because he was concerned about the side effects of muscle soreness. I did a comprehensive blood cardiovascular workup that showed he was positive for the MTHFR gene.

Michael was an energetic eight-year-old boy whose parents brought him in for a naturopathic approach for his diagnosis of ADHD. They were seeking naturopathic ways to help him without using prescriptive medications. Among various tests that I did, he was positive for the MTHFR gene.

Karen was 55 and had a long history of migraines, insomnia, and anxiety. She had some results with using various medications over the years, but the underlying conditions still persisted. She was looking for more answers to her health concerns. She too tested positive for MTHFR gene.

Why did I do the MTHFR genetic phenotyping on these patients? Because as I've learned over the past few years through various seminars and trainings that one in three people have the genetic variation to not be able to properly break down or methylate folic acid. Why is this so important? Every cell in our body needs this to function properly. Methylation is the way our body detoxifies and deals with inflammation. When we have viral or bacterial infections or stress our methylation process gets affected.

When we eat foods with folic acid in it we need to convert it to the active form methylfolate or 5-MTHF. In order for us to do this process, we need an enzyme to make this happen, and our genetics control this activity. All processed foods such as cereals, bars, enriched flours or orange juice that contain folic acid are not usable if we don't have the enzyme.

Methylfolate or 5-MTHF is important to help make neurotransmitters such as serotonin, dopa-mine, and epinephrine. These chemicals in our brain help us to sleep, express emotions, focus and learn, and calm down. If ones methylfolate levels are low, then so are ones neurotransmitters. If our neurotransmitters are low then we can have symptoms of depression, anxiety, insomnia, ADHD, and addiction issues to name a few.

When I do testing for MTHFR I consider it a screening test. If a patient wants to optimize their health and be aware of disease risk factors I will test for MTHFR. If a patient's family history or their own includes neurological disorders, cardiovascular disease, depression, cancer, autism, thyroid diseases, cleft palate, fibromyalgia, schizophrenia, bipolar, irritable bowel syndrome, Alzheimer's disease, rheumatoid arthritis I will suggest this test.

Through various advances in testing we can look at the two most common mutations in the gene, C6777 and A1298. If you are Heterozygous -- that means you have one copy of a mutation and one normal one -- your MTHF enzyme will be 40% reduced in functioning. If you are Homozygous -- then you inherited two copies of the gene -- which means your enzyme is at 70% reduction of functioning. This information can help me decide on which naturopathic therapies are needed to provide the best support.

Ultimately if a patient is maintaining a healthy lifestyle and functioning well overall in their physical and emotional life then their genetics is not the be all to end all. This information can be one of the missing pieces in their chronic disease puzzle that I'm trying to discover.


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