What is the Deal with the MTHFR Mutation?

Realizing the importance of methylated B vitamins…

By: Jessica Ourisman
What is the Deal with the MTHFR Mutation?

We live in an era when medical technology is making health and wellness accessible in new ways. Genetic testing — which can be ordered by a doctor, but is also readily available through direct-to-consumer DNA kits like 23 and Me — provides glimpses into our genetic makeup and health predispositions. For the wellness-conscious, this is an exciting opportunity to become more empowered and proactive in the ways that they tend to the unique specifications of their physiology.

One piece of medical information found on these tests relates to two methylation-related genetic variants that comprise the MTHFR mutation. Naturopathic physician Tricia Pingel frequently treats patients with the MTHFR genetic mutation, which she points out affects roughly 40% of the population. For those who test positive, it means that it is more difficult for their bodies to create active folate, thereby impacting bodily processes that range from detox to cardiovascular health, menstrual health, mental health, and more.

What is the MTHFR Genetic Mutation?

“MTHFR is an enzyme that assists in changing amino acids and requires B-vitamins, driving the reaction [that] converts homocysteine into methionine, another amino acid,” says Dr. Pingel. “The entire cycle involves methylation, which is [the biochemical process of] taking a methyl-group and adding it to something else [in order] to drive a biological process forward, from hormone synthesis to detoxification, to our neurotransmitters.” The gist is that the important biochemical process that begins with the transfer of atoms has far-reaching implications on the greater functioning of the body. As noted, B vitamins are required — specifically, the active (or “methylated”) form of folate known as 5-MTHF. The bottom line is that there needs to be enough 5-MTHF for the methylation cycle to work as intended. For those with the MTHFR mutation, this is often not the case, and a supplemented form of methylated B vitamins may be necessary.

The Main Symptoms of the MTHFR Mutation

Looking at the big picture, this innate inefficiency related to methylation may impact estrogen metabolism, neurotransmitter production, detoxification, eye health, cellular energy, fat metabolism, and liver health. “Symptoms will vary from case to case, but most commonly you’ll hear about cardiovascular impacts like high blood pressure, miscarriages, depression, anxiety, menstrual cycle changes, fatigue, and anemia,” she says. “Research also shows links to diabetes, chronic pain, and dementia.” She considers the gene to be a possible reason behind her father’s heart attack at the age of 40 and fatal stroke at 58. His side of the family also had histories of suicide and depression, which can also be indicators of the mutation. But even heavy, painful periods each month, trouble focusing, or elevated levels of homocysteine showing up in your lab work can be indications of the mutation. Even certain cancers become more likely with the mutation. 

Lifestyle and Environment Matters

“When you look at a pathway where detoxification is at stake, environment matters majorly,” Dr. Pingel points out. We are unique as individuals, and there are also two different variations of the mutation — C6777T and A1298C — that can impact severity and symptoms differently. But lifestyle choices are still a major determinant of how (and whether) associated symptoms are experienced. For instance, Dr. Pingel notes that a large majority of patients with breast implant illness have the mutation. “If you have problems with methylation, you have to be careful about what you point into your body,” Dr. Pingel says. 

When it comes to the ideal diet, she recommends an antioxidant-rich, low-inflammatory diet, pointing out that many plants are great sources of methylated B vitamins. (In fact, she attributes her positive prognosis with the mutation to her plant-based diet.) If you do eat meat, go for low-inflammatory sources like wild-caught fish and grass-fed poultry. “I tend to look more to lentils, beans, nuts, seeds, and a ton of colorful fruits and veggies,” she says, noting that color is the layman’s way of knowing how antioxidant-rich your food is. Avoiding additives and preservatives is also important, as they must be methylated, detoxified, and removed. 

“The main environmental factors that can worsen the prognosis of the MTHFR mutation are any type of toxins such as air quality, mold, recreational drug use, and anything that puts a high toxic load into the body,” Dr. Pingel says. “If you already have a predisposition to any of the conditions, those can compound the outcome. The MTHFR mutation is not a disease, but a condition of compounding factors.”

How to Treat It

The good news is that treatment for the MTHFR mutation is simple: taking a high-quality, methylated B vitamin complex. These provide your body with the active forms of the vitamins impacted by poor methylation. “B6, B12, and Folate are the three vitamins impacted by this mutation,” she says. “All have a significant impact on health. A good, well-rounded, methylated B-complex vitamin helps you bypass the backup problems in the pathway.”

If you don’t want to take a genetic test (and some patients don’t), that’s ok. Because taking methylated B vitamins is safe for anyone, you can take them regardless of whether you know you have the mutation or not. “If you treat yourself as if you have the mutation, you won’t have a fallout from it… Treatment is so easy and well-tolerated that they don’t necessarily have to confirm [with genetic testing].” In addition to taking high-quality B-vitamins, added antioxidants, stress-reduction, diet, exercise, or additional detox or cleansing, can make a difference.

This is an important time to rē-frame knowledge as power when it comes to our health. Even though it can seem intimidating, the information we now have access to, can impact our health trajectories proactively, directly, and with greater success than ever before.

Total Health Apothecary Total B Complex, $21.50

You can try Dr. Pingel’s own compounded form of B-vitamins which are ideal even for those with the MTHFR mutation.

Moon Juice Ting!

If you would prefer to drink your vitamins rather than take capsules, Moon Juice’s most recent launch — is a mango-flavored powder that can be added to water and sipped throughout the day. Hint: If you prefer bubbles, freeze Ting! into ice cubes and add them to your favorite sparkling water.





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