Genes Matter MTHFR Mutations Matter

Methylenetetrahydrofolate reductase abbreviated as MTHFR is actually a very common genetic mutation that affects nearly 50% of people mildly and approximately 25% of people seriously. The MTHFR gene provides instructions for your body to make the MTHFR protein, which helps your body process folate. Responsible for making Methylenetetrahydrofolate reductase, which is an enzyme that plays an important role in processing amino acids. Your body needs folate to make DNA and modify proteins. Because of this, MTHFR plays a significant role in the potential for triggering autoimmune diseases and can greatly inhibit the body’s natural detoxing process. With this in mind, if nearly 50% of people are even mildly affected, shouldn’t you know if you are part of half of the population that carries this mutation?

People have two MTHFR genes, inheriting one from each of their parents. Mutations can affect one (heterozygous) or both (homozygous) of these genes. There are two common types, or variants, of MTHFR mutation: C677T and A1298C.

The MTHFR gene mutation was discovered during the completion of the Human Genome Project. Researchers realized that people with this type of inherited mutation tended to develop certain diseases, including ADHD, Alzheimer’s, atherosclerosis, autoimmune disorders and autism more often than those without the mutation.

Methylation is a simple biochemical process – it is the transfer of four atoms – one carbon atom and three hydrogen atoms (CH3) from one substance to another. Methylation is important for repairing damaged cells, processing hormones (especially estrogen metabolism), detoxification, optimizing DNA cellular function, regulating neurotransmitters, metabolizing B vitamins, liver health and metabolizing fats.

CH3 is provided to the body through a universal methyl donor known as SAMe (S-adenosylmethionine). SAMe readily gives away its methyl group to other substances in the body, which enables the cardiovascular, neurological, reproductive, and detoxification systems to perform their functions. Unfortunately, the system that produces SAMe is reliant on one switch being turned on by a critical B vitamin, 5-MTHF (also known as active folate or methylfolate).

Folic acid from the diet or supplements must be converted to this active form, 5-MTHF, before it can be used in the body in the methylation cycle. Folate depletion leads to anaimia “lack of blood”, this will also lead to thyroid dysfunction. Unfortunately, approximately 50% of people in the United States have a genetic mutation that makes it challenging for their bodies to create enough 5-MTHF. THIS IS WHY IT MATTERS!

Having more folate in your diet means you’re better able to create the active form of 5-MTHF. Some of the best high-folate foods include:

  • Beans and lentils
  • Leafy green vegetables like raw spinach
  • Asparagus
  • Romaine
  • Broccoli
  • Avocado
  • Bright-colored fruits, such as oranges and mangoes

As I mentioned medications can deplete B12; they can also further deplete already low folate levels and interfere with methylation. Speak with your doctor if you take any of the following drugs, which might make symptoms worse:

  • Antibiotics, specifically sulfa-containing drugs like Sulfamethoxazole and trimethoprim (SEPTRA or Bactrim), sulfasalazine or triamterene (found in Dyazide)
  • Birth control pills
  • Hormone replacement therapy drugs
  • Anticonvulsants (like phenytoin and carbamazepine)
  • Antacids/acid blockers
  • NSAID pain relievers
  • Antidepressants
  • Chemotherapy treatments
  • Cholesterol-lowering drugs (like niacin, acid sequestrants, cholestyramine, colestipol and colesevelam)
  • Nitrous oxide (typically during dental work)
  • Methotrexate for rheumatoid arthritis
  • Metformin for diabetes and PCOS

When the methylation switch is turned off and isn’t creating enough SAMe, then a number of important molecules cannot be efficiently produced, including:

  • Glutathione
  • Coenzyme Q10
  • Melatonin
  • Serotonin
  • Nitric Oxide
  • Norepinephrine
  • Epinephrine
  • L-Carnitine
  • Cysteine
  • Taurine

Those with MTHFR A1298C mutations, often complain more of digestive troubles, as well as high histamine levels and allergies. Those with this particular mutation are also more prone to trouble with neurotransmitters and that can greatly contribute to mental health problems, as well as a low-grade systemic inflammation that slowly erodes at the health of the individual perpetuating the mental health “problems”. MTHFR A1298C are tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia and mood-related problems. Is this mental health presentation really a problem that results in another label or is it just a deficiency that needs to be balanced? Inflammation will be created by the body’s inability to detox from toxins both from the environment, as well as secondary toxins created by parasites and toxins circulating in the body. Would it surprise you to know that those with an MTHFR mutation may be at higher risk for alcohol and other addictions?

MTHFR C677T mutations are tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages and neural tube defects. Some studies suggest that people with two C677T gene mutations have about a 16 percent higher chance of developing coronary heart disease compared to people without these mutations. This is especially true if you’ve inherited the mutation from both parents or have both forms of MTHFR mutations. You can either have a heterozygous MTHFR mutation (from one parent) or a homozygous mutation (from both parents). Individuals with homozygous mutations tend to have more severe symptoms and health problems due to having lower methylation and enzyme production. This is why it is so important to LOVE YOUR LIVER!

Reducing synthetic folic acid often found in processed and enriched grains, it will also be important to reduce gluten, added sugars, conventional dairy (get back to raw unpasteurized milk), refined vegetable oils like canola oil and trans fats. More Omega3 and less Omega6! Consider adding organic bone broth daily as it is full of probiotics, enzymes, vitamins and minerals the body can readily digest, it also promotes gut healing and reduces inflammation.

Due to the reduction in sufficient neurotransmitters and hormones like serotonin, testosterone and estrogen due to MTHFR mutations, anxiety is often a symptom and indicator you may have a mutation. Women are far to often misdiagnosed with a mental health disorder before anyone ever looks at genetic makeup. They tell us we are stressed, need more sleep, and prescribe medications. Certain B vitamins are considered anxiolytic, in ancient Greek, “anxio” means “anxiety”, and “lytic” means “to loosen”. There vitamins include Cobalamin (B12) and Folic Acid (B9). There are multiple pharmaceutical medications that deplete this essential B12 vitamin. This will cause a potential side effect to increase anxiety with continued use of these particular pharmaceuticals. Having high levels of estrogen can lead to a deficiency in B12 as well as not properly balancing your body’s pH will also contribute to this potential deficiency. Regular check ins with a holistic practitioner for pH balancing is a great way to stay on top of this.

HOLY ANXIETY CENTRAL! To put it simply, if enough 5-MTHF is present, the methylation cycle will work efficiently. But if there is NOT, then…. Imbalances in all of these areas will increase anxiety, then you see your doctor and they prescribe and anti-anxiety medication or refer you to a therapist or counselor. But is that your root cause? Do your problems get better after you take the medications or do new ones present themselves on top of the old ones?

MTHFR mutations make it critical that you are getting methylated vitamins and detoxing efficiently, your supplements, lifestyle, food choices, and even prescriptions DO MATTER! Ask your doctor so you can know your MTHFR status. If they are unwilling to run it, as many see it as inconsequential, then you can go to your nearest laboratory, and I will help you be your best self-advocate!

“Be willing to do whatever it takes to be a warrior for your own health.” 

– Jan Mundo

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