If you have a family history of heart disease including heart attack or stroke, if you’ve had multiple miscarriages, or if you suffer from depression, migraine headaches, irritable bowel syndrome or infertility, you may consider getting tested for a common (yet extremely under-diagnosed) genetic defect called MTHFR. Recent advances in genetic testing capabilities have made it affordable and convenient to test for this and other gene polymorphisms. If you’re like many of my patients, you may be struggling with chronic illness, trying everything in your reach to heal, and yet getting nowhere. If this sounds like you, it’s highly possible that you may be missing a key link in your path to wellness.
Methylation Gone Wild
Before understanding exactly what the MTHFR gene defect is, it’s necessary to know a little about methylation. Methylation is a vital metabolic process that occurs in every cell and every organ of our body. It happens more than a billion times per second in the body, and life would simply not exist without it. Biochemically speaking, methylation is a simple process. A methyl group consisting of a carbon atom linked to three hydrogens gets passed from one molecule to another. Though we can’t feel it, our bodies are methylating in this very moment, creating, sustaining, and repairing our DNA. Nutrigenomics and Integrative Medicine researcher April Ward-Hauge explains it simply:
This [improper genetic coding] is analogous to crafting a car without bolts, wiring, or cables—while it might look like a car, be prepared for some surprises when you attempt to drive it off the lot. Just as a highly skilled assembly line manufactures quality automobiles, the methylation community regulates the switching on and off of the genetic codes, thereby creating a high-functioning human being. (Source)
The resulting methylated molecules control vital processes in virtually every system in our body. Specifically, methylation influences:
- Detoxification– Poor methylation can lead to toxic overload and accumulation of bad estrogens.
- Energy Production– Methylation affects the production of ATP—the energy unit of the cell.
- Cell Division and Repair– Methylation controls the synthesis of nucleic acids, production, and repair of DNA and mRNA.
- Neurotransmitter Production– Methylation defects can result in autism spectrumInfants and children of parents with MTHFR mutationsdisorders, ADHD, depression, anxiety, and other cognitive and behavioral issues.
- Gene Expression– Methylation controls the “turning on” and “turning off” of genes.
- Immune Function– Methylation influences the formation and maturation of red blood cells, white blood cells, and platelets.
Genes Behaving Badly
Mutations in spec
ific genes that code for methylation frequently occur and can lead to decreased activity of these enzymes, causing an overall decline in methylation activity in general. The most common mutations occur in the MTHFR (methyl-tetrahydrofolate reductase) gene. Researchers have discovered over fifty variants of the MTHFR gene, but two of these (C677T and A1298) are the most important. Variants in this key gene result in poor methylation, leading to a host of health problems.
If you have a MTHFR gene mutation, it will either be heterozygous or homozygous. You inherit genes from both parents so you could have received one mutated gene (heterozygous) or both copies (homozygous). If you are heterozygous, your methylation activity will run at about 60% efficiency compared to a normal. If you are homozygous, your enzyme efficiency drops down to 10% to 20% of normal, which can be very serious. Many common chronic symptoms are tied to this perfect storm including fibromyalgia, irritable bowel syndrome, migraine headaches, chemical sensitivity, frequent miscarriage, and autism.
Conditions Associated with MTHFR Gene Mutations
- Autism
- Addictions: smoking, drugs, alcohol
- Frequent miscarriages
- Male and female infertility
- Blood clots including heart attacks and stroke
- Depression and anxiety
- Bipolar disorder
- Fibromyalgia
- Chronic Fatigue Syndrome
- Chemical sensitivity
- Parkinson’s disease
- Irritable Bowel Syndrome
- Spina bifida
- Migraine headaches
- Breast cancer
- Alzheimer’s
- Multiple Sclerosis
Testing and Treatment Options for MTHFR Mutations
Fortunately, it’s easy to test for the MTHFR mutation. More and more functional labs are now offering this and other genetic tests. The 23andMe test is a consumer-based saliva test that will also supply the information. If you discover that you have one or more of the gene mutations, there are effective treatment options to maximize your methylation potential. For example:
- Decrease Stress– Stress has been shown to decrease DNA methylation, deplete B-vitamins necessary for methylation, and trigger gene mutation to be passed to our offspring.
- Limit Toxin Exposure– Poor methylation leads to a decreased ability to detoxify properly. This can lead to a higher susceptibility to toxicity from sources like heavy metals, pesticides, mold, and other environmental toxins and pollutants.
- Optimize Gut Health– Endotoxins from unfriendly yeast and bacterial overgrowth in the intestines have been shown to clog the methylation cycle.
- Supplement Your Diet– The easiest solution for overcoming poor methylation is to supplement your diet with the methylated forms of folate (methyl-folate) and vitamin B-12 (methylcobalamin). I also would recommend adding trimethylglycine because of its ability to donate methyl groups, and n-acetylcysteine (NAC), to help up-regulate detox pathways. Patients with MTHFR mutations can be very sensitive to supplements, so I would suggest working with a trained functional medicine practitioner when addressing these complex health issues.
Who Should Get Tested?
I recommend testing for MTHFR mutations in all patients with:
- Mood disorders: depression, anxiety, irritability, mood swings
- Family members related to someone with MTHFR mutationsInfertility and pre-conception care: test both man and woman
- Patients who have one or more of the following lab findings: elevated homocysteine, elevated s-adenosylhomocysteine (SAMe), or elevated serum B-12
- Patients with complex chronic “syndromes:” IBS, multiple chemical sensitivities, fibromyalgia, chronic fatigue syndrome
- Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’sCancer: family history of cancer or undergoing cancer treatment
- Cervical dysplasia
- Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, hypertension
- Birth defects: cleft palate, spinal bifida or other midline defects
- Drug sensitivities: methotrexate, anti-seizure meds, nitrous oxide, anesthesia
I’m a Mutant, Now What?
Many of you who choose to get tested will find that you do have the MTHFR mutation. This should NOT be looked at as a negative or cause for stress and worry, but rather as an opportunity to minimize your risk for chronic disease and optimize your health. By finding out that you have the MTHFR gene mutation, you’ve saved yourself so much time and energy trying to fix a surface-level problem that really stems from a root cause. Remember that there are safe and effective lifestyle and nutrition-based treatment options that can help you live a healthy, thriving life. The 23andMe test is a great place to start!
If you would like additional support, I suggest locating a functional wellness practitioner in your area, or contacting my office to schedule a consultation. Finding out you have a serious health concern such as the MTHFR gene mutation may leave you feeling overwhelmed, and we don’t want your body stressed! Working with the right team of people and having a knowledgeable and caring support system can help put you at ease and give you the strength and encouragement you need to power through day-by-day. Above all, remember that, while healing can be a challenging journey, you’re not alone, and you WILL get through it.
I want to hear from you! Have you been tested for the MTHFR genetic mutation? Are you currently taking steps to increase your body’s ability to properly methylate? Let me know in the comments below!
