MTHFR stands for Methylene Tetrahydrofolate Reductase, an enzyme responsible for an essential process called methylation. Methylation converts carbohydrates into energy, specifically ATP, the body's energy currency. For those with an MTHFR genetic mutation, this process is disrupted, causing numerous health issues, such as chronic fatigue, depression, hormonal imbalances, and more.
What Does MTHFR Do?
In a healthy body, the MTHFR enzyme helps convert folate (Vitamin B9) into its active form, 5-MTHF, which the body uses for various functions like DNA synthesis, detoxification, and neurotransmitter regulation. The conversion of homocysteine, an amino acid, into methionine—necessary for creating proteins and other vital compounds—also depends on methylation.
When there is an MTHFR mutation, the enzyme becomes less efficient at these processes, leading to elevated homocysteine levels and reduced ATP production. In simple terms, you are producing less energy and accumulating harmful by-products.
Common Symptoms of MTHFR Mutation
Depending on the specific MTHFR variant (such as C677T or A1298C), individuals may experience varying degrees of symptoms. Some of the most common issues include:
Chronic Fatigue: The inability to produce enough ATP means a constant state of low energy.
Depression and Anxiety: Since methylation affects neurotransmitter balance, MTHFR mutations can lead to mood disorders.
Hormonal Imbalances: Low levels of critical B vitamins can disrupt hormone production, leading to issues like low testosterone or hypothyroidism.
Cardiovascular Problems: Elevated homocysteine levels increase the risk of cardiovascular disease.
Difficulty Detoxifying: The impaired methylation process can make it harder for the body to detoxify, leading to increased oxidative stress.
Testing for MTHFR
To determine if you have an MTHFR mutation, genetic testing is necessary. You can do this through at-home tests like The Works Genetic Test through through my office. It’s specifically designed to uncover the various gene mutations related to MTHFR.
Additionally, testing your intracellular nutrient levels is important. Many people with MTHFR have deficiencies in key vitamins, particularly B12, folate, and B6, which are necessary for efficient methylation.
How to Manage MTHFR
Managing MTHFR involves a personalized approach that addresses both genetic factors and nutrient deficiencies. Here are some critical steps:
Identify Your MTHFR Variant: Knowing whether you carry mutations like C677T or A1298C can help guide your treatment.
Address Nutrient Deficiencies: People with MTHFR often struggle to absorb certain vitamins, particularly B12, folate, and B6. Supplementation with active forms of these vitamins, such as MTHFR Daily, can help support the methylation process and restore energy levels.
Supplement with Glutathione: Functional glutathione supplementation, like VARS Glutathione, can help reduce inflammation, stabilize immune cells, and assist with detoxification. Glutathione is essential because it helps regulate oxidative stress, something that MTHFR mutations can exacerbate.
Most common intracellular vitamin and mineral deficiencies caused by MTHFR:
Vitamin B6 (Pyridoxine)
Folate (5-MTHF)
Vitamin B12 (Mehtylcobalamin, Adenosylcobalamin, Hydroxycobalamin)
Vitamin B5 (Pantothenic Acid)
Choline
Zinc (Zinc Glycinate, Zinc Picolinate)
N-Acetyl Cysteine (NAC)
Tyrosine
Serine
Glutathione (GSH Reduced Glutathione)
The Role of Inflammation and Immune Response
In individuals with MTHFR mutations, elevated homocysteine levels can stimulate white blood cells, leading to chronic inflammation. This inflammation, driven by cytokines like IL-8 and MCP-1, can contribute to vascular issues, joint pain, and other systemic problems. By managing your homocysteine levels, you may also reduce inflammation and improve your overall well-being.
Long-Term Management
MTHFR is a genetic condition that can’t be "cured," but its symptoms can be managed effectively with the right combina
tion of genetic insight, nutrient supplementation, and lifestyle changes. By understanding your body’s specific needs, you can take steps toward better health, improved energy, and a higher quality of life.
Dr. Purser’s book, The 85 Percent Solution, offers further insights into MTHFR management, along with his MTHFR Course, which provides a comprehensive guide to understanding and addressing this condition.
For more in-depth information, be sure to visit my webpage on MTHFR.
I've recently read that MTHFR deletion causes your DNA to uncurl and straighten somewhat, leading to it being more prone to EMF damage--also that healthy DNA stays curled to protect itself. I've dealt with this issue for years, and noticed that, once I figured out what was wrong and started treating it, I've found I'm way less sensitive to EMF's.