MTHFR gene mutations are not autoimmune in nature, but are believed to predispose people to certain autoimmune diseases, cancers, and birth defects, as well as heart disease and other health issues.
The Role of MTHFR
MTHFR is a gene that provides the body with instructions for marketing an enzyme called methylenetetrahydrofolate reductase, or MTHFR for short. MTHFR converts folic acid into methyl-folate (folate’s active form), which is critical to methylation* and breaking down homocysteine in order to build proteins and optimize a number of bodily processes, including DNA production, hormone metabolism, and proper detoxification.
*Methylation is the process that allows bodily receptors to turn on and off and to function efficiently. S-adenosyl-L-methionine (SAMe) is the universal methyl molecule that donates a methyl (CH3) group to enable our cardiovascular, detoxification, and neurological systems to perform. If methyl-folate is not present, this methylation process stops, resulting in a cascade of problems.
An MTHFR gene mutation (often called a variant) is an error in the gene that causes it to malfunction, leading to low levels of folate and vitamin B, and high levels of homocysteine in the blood. Over time, these improper levels put you at higher risk for a variety of diseases.
Causes and Types of Variants
Gene mutations are inherited. You receive one copy of the MTHFR gene from each parent at conception. Depending on your parents’ genes, you can have either one (heterozygous) or two (homozygous) variants, or none at all. If both parents have mutations, your risk of having a homozygous variant increases.
The two most common DNA sequence variants, known as single nucleotide polymorphisms (SNPs), are C677T and A1298C.
- The most common MTHFR mutation occurs at the gene position C677T. According to studies, approximately 20-40% of white and Hispanic Americans in the U.S. are heterozygous for MTHFR C677T. People with C677T mutations have reduced enzyme functions (working at only 30-65% of normal).
- Slightly less common is the MTHFR A1298C variant, affecting about 10% of the North American, European, and Australian populations combined. Having the A1298C mutation leads to 60% of normal enzyme function.
- Acquiring both C677T and A1298C mutations (one copy of each) is called double or compound heterozygous variation. This mutation also results in decreased enzyme function.
Symptoms Related to MTHFR Gene Mutations
Everyone is affected differently, but research has shown a link between MTHFR gene mutations and the following health conditions:
- Cardiovascular and thromboembolic diseases, including
- Blood clots
- Heart attacks
- Neurological conditions, such as
- Bipolar disease
- Endocrine and hormonal problems, including
- Recurrent miscarriages
- Autoimmune diseases, such as
- Neural tube birth defects, like spina bifida and anencephaly
- Digestive issues, like IBS
- High cholesterol
- Chronic fatigue
Additional studies are needed to determine how MTHFR variants contribute to the development of these associated conditions and the severity of their impact.
Testing for MTHFR Gene Mutations
The MTHFR genotype test is a simple blood test. However, most doctors do not test for MTHFR gene mutations unless a patient has excessively high levels of homocysteine with no known cause, or if he/she or a family member has a history of blood clots or heart disease at an early age. Doctors more commonly test for homocysteine levels and proceed accordingly.
Because the purpose of the genetic test is only to identify if an MTHFR mutation is present and affects how your body processes folate, rather than screen for related diseases, it is most often not covered by insurance companies. If paying out-of-pocket is an option for you, there are a few at-home gene testing kits that include MTHFR screenings, including 23andMe and My Home MTHFR, among others.
Treatment for MTHFR Gene Mutations
Having an MTHFR gene mutation doesn’t necessarily require treatment, unless the variant presents itself through elevated homocysteine levels and causes other health conditions that require attention. That said, following a healthy lifestyle that includes eating a whole foods based diet, reducing stress, and getting daily movement and quality sleep is never a bad idea.
If you need additional support, talk to your doctor about taking actions to increase methylation and support detoxification. Some recommended practices may include:
- Eating folate-rich foods, such as leafy greens, asparagus, broccoli, liver, legumes, and citrus fruits
- Drinking filter water (from a glass, aluminum, or stainless steel vessel)
- Supplementing with methylated folate and vitamin B12 or B complex
- Adding digestive enzymes and/or Betaine HCl and pepsin before meals
- Stimulating the lymphatic drainage system through sweating, using hot/cold therapy, dry brushing, and deep breathing
- Supporting liver detoxification with nightly castor oil packs and red light sauna treatments
- Reducing toxic load by eliminating plastics and nonstick cookware, using plant-based cleaning supplies and personal care items, and decorating with low or no-VOC furniture, carpets, mattresses, and paint
Keeping an eye on folic acid, vitamin B12, and homocysteine levels (done through normal labs/blood work) may be warranted based on your own personal history. Always work with a medical professional to determine the best course of action for your particular needs.
Remember, having one or more MTHFR gene variants isn’t a guarantee that you’ll experience health complications. It only predisposes you, and a predisposition isn’t a life sentence. You do have some control with your lifestyle choices.