Genes in general and MTHFR specifically
Your genes are expressing if you have blue eyes, red hair, or are left-handed. But your genes are also expressing if you are over-weight or have any of the following diagnostic labels: high blood pressure, diabetes, heart disease, cancer, an autoimmune disease, Alzheimer’s, Attention Deficit Disorder, autism and so many more. So, what makes a gene express in a “bad” versus a good way? Since the Human Genome Project in 2003, we have amassed a great deal of information about how our genes 
impact our health…and how our lifestyle, behavior, diet, thoughts and exposures affect our genes.
We literally have thousands of genes, but this blog is going to start with one. Just one…and all that it might involve.
What the heck is MTHFR (is it what it sounds like)? What might go wrong? …and, What should I ask my doctor about it?”
What is MTHFR and what might go wrong? Methylene-tetra-hydro-folate (MTHFR) is a gene. Each gene has a possibility of having mutations or single nucleotide polymorphisms (SNPs) that can affect the gene’s expression. Presently there are two MTHFR SNPs that are more commonly researched, C677T and A1298C, but there are many others for which there is little understanding of their clinical significance.
MTHFR C677T primarily affects folate metabolism and methylation in the “forward path,” causing low folate levels, potentially low B12 and an excess of homocysteine (among other things). What does this mean? If you have this gene, you have a greater chance of experiencing clots, strokes, miscarriages, cancer and more. But wait! Before you express an expletive…please keep remembering that how we eat and live is even more important than the genes we were dealt.
MTHFR A1298C, on the other hand, causes problems with the “reverse” of the folate cycle, leading to shortages of tetrahydrobiopterin (BH4). This SNP is responsible for brain chemicals relating to mood and sleep (catecholamines) and nitric oxide production. When it is expressing poorly, we might experience depression, anxiety, insomnia, bipolar, low blood oxygen, chronic infections, parasites, gut-related problems, light-headedness, problems with vasculature including arterial development and vasodilation of arteries, miscarriage and more.
NOTE: Genes rarely, if ever, work or “express” alone. They partner (in good or in bad) with thousands of other genes and you can cause perfectly healthy genes to “misbehave” through diet, lifestyle and exposures (epigenetics). Whether you have MTHFR SNPs or not, you can still create problems with homocysteine, BH4 or other health complications simply by the way you eat and live.
What should I ask my doctor about MTHFR? Be patient with your traditionally trained doctors (to a point). Many did not learn about nutrition during their training, let alone genetics, epigenetics and nutrigenomics (how to heal your genes using nutrition). So this can make their head spin too.
There are simple lab tests to identify and monitor homocysteine levels. But testing for BH4, nitric oxide and neurotransmitters are not as “common” (although possible). The availability and purpose of these tests are unknown to many physicians and thus they often say the problem is simply “in your head.” These tests are critical in helping to identify imbalances in our brain chemicals that can be corrected through lifestyle, diet and nutritional supplements.
But there is hope through functional medicine! Functional medicine is a framework that views a patient’s symptoms or conditions in the context of their greater “story,” including family history, genes, lifestyle, diet, stress, exposures and more. Functional medicine-trained physicians learn how to use testing in conjunction with your “story” to partner with you in designing a plan for healing and lifetime well-being.
Having suffered from many of the above-discussed conditions myself, I was rejected by traditional medicine and went desperately looking for an answer. Through functional medicine, I found answers that allowed me to expand my training in order to help myself and my family (because…we are genetically connected after all).
If you would like to work with me to learn more about how your diet, lifestyle and genes are working for or against you, schedule a free 15-minute appointment.
To Your Health!
Dr. Angela
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They are used to test if the glucose meter is working properly.
Some women have low levels of these antioxidants due
to poor eating habits, which is common among younger women and teens.
Department of Health and Human Resources; National Heart,
Lung and Blood Institute.