Unless you’ve been living in a cave in the Galapagos for the last 3 years, you’ve probably heard the letters MTHFR being bandied about in the wellness stratosphere but this can all be very confusing unless you have a PhD. in Genomics. It gets even more confusing when you find out you have genetic mutations associated with this pathway. It gets mind boggling when you realize that pretty much all of us have some sort of methylation issues.
Let’s just say, if there are genetic mutations on this pathway and they aren’t addressed you are just waiting until, over your lifetime, toxins build up and create a toxic load and you have an “event” before you “tip” and develop a chronic illness.
So let’s see if we can’t break this down into simpler terms. MTHFR stands for the enzyme Methyl-Tetra-Hydro-Folate Reductase. What this enzyme, essentially, is responsible for converting folic acid into folate (a more active form of folic acid) and folate into folicinic acid and methyfolate (preferably from folate) and both of these conversions are necessary for different functions. Before we move on remember, folic acid is converted into folate which is converted into 3 other “incarnations” (I won’t bore you with all the details) until it reaches it’s final incarnation, with the help of MTHFR, into 5-MTHF. That enzyme is what goes on to lower homocysteine levels in the body converting it to methionine, which is needed at the cellular metabolism level, creation of muscle tissue and helps us with our brain chemistry balance, among many other functions. Let’s not forget one of the most important processes is the production of glutathione. (Our example below!)
MTHFR, in fact, goes on to donate it’s methyl groups to substances and nutrients (the process of “methylation” which are responsible for the creation of cells, neurotransmitters, creating and supporting immune cells, and even processing hormones like estrogen. For those of you struggling with estrogen dominance, in my practice, I often use genetic testing to make sure this is not the root of the issue.
This process also is imperative for the creation of energy and also detoxifies chemicals like BPA (which can break the methylation cycle even without mutations present).
Think about MTHFR as a superhighway. The end of the superhighway is a few different results but one of those results in glutathione which is “the master antioxidant”. This results in low glutathione. We will be discussing all the things that can go wrong when the MTHFR pathway is affected and glutathione is low shortly.
Generally, in my practice, I test a fairy full panel for DNA Methylation (expensive but greatly helpful), not simply MTHFR but you can easily get a test that tests for two main MTHFR genes,C677T and A1298C (though there are 7 more that can have mutations). You can also test for your B-12 status, homocysteine levels (mutations will generally cause high B-12 and homocysteine levels), folate levels, and Glutathione levels, which will generally be low.
So let’s talk about why.
If Gluthathione is one of the major results of a well functioning pathway, you can think of this as our destination, the master antioxidant, as needing a smooth superhighway. If you have one mutation in one of the genes (and they measure two major ones but there are 50+ that have something to do with the outcome of our health) this is a little like a 2 car accident that spills from the shoulder into one lane. If you are homozygous and have two mutations of the same allele in the gene then this is like a 4 car pile-up. You will still get through but you’ll be stuck in traffic for a long long time. If you have mutations on both genes, this is equivalent to a major traffic jam!
The above diagram is very simplified for ONE process. The diagram of all this pathway does will make you run screaming from the room, trust me. Let me just list some of what can go wrong when this mutation occurs.
- Addictions: smoking, drugs, alcohol
- Down syndrome
- Pulmonary embolisms
- Depression in Post-Menopausal Women
- Chronic Fatigue Syndrome
- Chemical Sensitivity
- Irritable Bowel Syndrome
- Spina bifida
- Esophageal Squamous cell carcinoma
- Acute Lymphoblastic Leukemia
- Vascular Dementia
- Bipolar disorder
- Colorectal Adenoma
- Idiopathic male infertility
- Blood clots
- Rectal cancer
- Congenital Heart Defects
- Infant depression via epigenetic processes caused by maternal depression
- Deficits in childhood cognitive development
- Gastric Cancer
- Migraines with aura
- Low HDL
- High homocysteine
- Post-menopausal breast cancer
- Oral Clefts
- Type 1 Diabetes
- Primary Closed Angle Glaucoma
- Tetralogy of Fallot
- Decreased telomere length
- Potential drug toxicities: methotrexate, anti-epileptics
- Cervical dysplasia
- Increased bone fracture risk in post-menopausal women
- Multiple Sclerosis
- Essential Hypertension
- Differentiated Thyroid Carcinoma
- Prostate Cancer
- Premature Death
- Placental Abruption
- Myocardial Infarction (Heart Attack)
- Methotrexate Toxicity
- Nitrous Oxide Toxicity
- Heart Murmurs
- Tight Anal Sphincters
- Tongue Tie
- Midline Defects
- Behcet’s Disease
- Ischemic Stroke in Children
- Unexplained Neurologic Disease
- Shortness of Breath
- Bladder Cancer
This isn’t even an exhaustive list. Hashimoto’s patients often have at least a simple heterozygous mutation.
Now, I’m not going to go into why you shouldn’t take folic acid in your supplement in this post but I can tell you, those with these mutations should be very careful about the type of folic acid they do take as manufacturers in the US put this “stable” form of folic acid in absolutely everything. Although high levels of synthetic folic acid can be toxic for those without these mutations, those with these mutations have an impaired ability to convert folate into the varying forms until it is reduce to 5-MTHF.
If you have these mutations it is imperative you get most of your folate from real foods (a post for another time) like green vegetables such as turnip greens, mustard greens, spinach, and romaine lettuce, and other vegetables such as asparagus, broccoli and beets, and citrus fruits. Folic acid can be toxic as it elevates homocysteine levels in the body. (More on that later, I promise.)
We are going to be discussing at length the different issues associated with these genetic mutations in future posts but let’s talk about a few things you can do to optimize this pathway.
- Heal your gut! I cannot stress this enough. If you have digestive impairment such as leaky gut, IBS, Chron’s Disease or even inflammation caused from food sensitivities that have not been addressed (lucky you if this is the least of your worries), healing your gut to enable you to metabolize and absorb nutrients from nutrient dense real foods. (Don’t know how to heal your gut?? No problem. Invest in our “Heal Your Gut For Good e-Course” which gives you sound protocols to support your body in healing on a very profound level.
- Avoid vegetable oils, chemicals and other toxic load in your cosmetics, personal and home care products. Reducing processed foods (Sugar+PUFA=inflammation) and choosing Low HI (human intervention) high vibrational foods and using healing herbs such as adaptogens can reduce inflammation and stress. Remember, processed foods, especially grain based foods are, more often than not, fortified with synthetic folic acid.
- Avoid synthetic folic acid in cheap supplements such as multi-vitamins. (Sorry One-a-Day). If you are trying to conceive, it is even more important to know your MTHFR status to know how much and what kind of folate supplement you should be taking. Depending on the mutation there are several forms of supplementation that are dramatically more effective not to mention won’t contribute to toxic load.
- Flushing out heavy metals can be a challenge but because those with this genetic defect have a tendency to not be able to detox them as easily, a heavy metal detox is imperative to optimizing this pathway.
While you can’t change your genes you can change their epigenetic expression and, in the hands of a qualified professional, it is possible and even probably to bio-engineer your health to the optimum!
Wishing you health, wellness, and beauty,