MTHFR is a gene everyone has. However, some MTHFR gene mutations may be associated with health problems and complications in pregnancy. Learn more!
This article has been medically reviewed by Dr. Charles Penick, MD
MTHFR: What You Need To Know
MTHFR awareness has grown over the years due to the potential health complications linked to MTHFR mutations. This article will discuss what it is, its symptoms, and dietary factors.
What is MTHFR?
MTHFR stands for methylene tetrahydrofolate reductase. It is an enzyme that converts folate (vitamin B9) into methyl-folate, which plays a key role in methylation. Methylation occurs when three hydrogen atoms (CH3) and one carbon atom are transferred from one substance to another. Every tissue and cell in the human body experiences methylation. MTHFR also breaks down homocysteine, which is an amino acid.
Potential problems occur when the MTHFR genes that code for this enzyme mutate. These mutations could hinder the enzyme’s ability to function properly or inactivate It altogether.
There are two primary variants/forms of MTHFR mutations: C677T and A1298C.
- C677T. With C677T, the body produces less 5-methylfolate to convert homocysteine back into methionine, an essential amino acid. According to the Genetic and Rare Diseases Information Center (GARD), 25% of Hispanics and 10-15% of Caucasians have two copies of C677T. 
- A1298C. A1298C is more regulatory in nature. It regulates the amount of SAMe (S-adenosyl methionine) produced by the body. If SAMe levels get too high, the MTHFR A1298C sensor is activated, reducing the number of methyl groups in the body (a central carbon atom bound to three hydrogen atoms). Methyl groups play a crucial role in normal cell replication, liver detoxification, and protein methylation.
We inherit genetic mutations from our parents, with one copy of the MTHFR gene coming from each parent. A person’s risk of having a homozygous mutation increases if both parents have mutations.
Symptoms of MTHFR
MTHFR can contribute to various health issues, but a definitive relationship has yet to be discovered.
MTHFR may have an impact on:
- Anxiety Disorder
- Heart attack
- High blood pressure
- Deep vein thrombosis
- Multiple miscarriages
- Chronic inflammation
- Low B12 levels
- Decreased immune functions
- Chronic fatigue
- Elevated liver enzymes
- Increased reaction to allergens
- Increased red blood cell folate
In addition, some medications could lower B12 and folate levels, worsening the symptoms above. Antacids, oral contraceptive pills, cholestyramine, trimethoprim, Nitrous oxide (laughing gas), and others could impact B12 and folate levels. Consulting with your doctor when taking these medications is advised.
Many health organizations do not recommend testing for variants unless a person has high homocysteine levels or the symptoms described above are present. To test for MTHFR, your physician may order a blood test.
The following organizations do not suggest testing for MTHFR gene variants:
- The American Congress of Obstetricians and Gynecologists (ACOG)
- The American College of Medical Genetics
- The American Heart Association
- The College of American Pathologists
These organizations resist testing because they do not believe the gene variants impact medical treatment or are a significant risk factor for various health issues.
Some at-home DNA test kits are available that test for MTHFR polymorphism. You swab the inside of your cheek and send the saliva sample to the company. The results usually come back in 9-12 weeks.
Many believe neural tube defects and recurrent miscarriages may be associated with MTHFR mutations. In addition, women with two C677T variants have an increased risk of having a child with a neural defect. . Preliminary studies on MTHFR indicate If elevated homocysteine levels are present, there is a “mildly increased risk of recurrent pregnancy loss.” 
Women should consult with their doctor if they’ve experienced any of the following:
- Pregnant and have MTHFR
- Had a child with a neural tube defect
- Had several miscarriages
Supplements For MTHFR
MTHFR decreases the body’s ability to process folate and other B vitamins, but multivitamins may help reduce MTHFR effects. Multivitamins and supplements contain folic acid, the artificial folate version. When taking a multivitamin, consuming 0.4 milligrams of folic acid daily is advised.
Another form of folate is methylated folate, which is bioavailable (may be absorbed better than folic acid). Pregnant women should continue to take their prenatal vitamins, which provide 0.6 milligrams of folic acid daily. Consulting with a doctor before changing multivitamins or supplements is advised, especially if receiving medical treatment or taking medications.
In addition to supplements, eating foods high in folate could help the body maintain adequate levels of this vital nutrient. Here are a few popular foods rich in folate:
- Proteins: Peas, lentils, cooked beans
- Juices: orange, tomato, vegetable, grapefruit
- Fruits: honeydew, banana, strawberries, grapefruit, raspberries
- Herbs and spices: Sage, dried spearmint, dried oregano, bay leaf, onion powder, curry powder, onion powder, chili powder
- Veggies: Broccoli, beets, lettuce, spinach, corn, Bok choy, Brussel sprouts
- Peanut butter
- Sunflower seeds
MTHFR mutation may be associated with many health problems, especially during pregnancy. MTHFR doesn’t get discussed often, but it is important to know what it is and its wide range of symptoms. Taking multivitamins with folic acid and eating foods rich in folate could help decrease the effects of MTHFR. Consult with your doctor if you are pregnant or believe you are suffering from MTHFR.
Medical Disclaimer: The information on this website is not intended to replace a one-on-one relationship with a qualified health care professional and is not intended as medical advice. It is intended to share knowledge and information. This article has been medically reviewed by Dr. Charles Penick, MD, for accuracy of the information provided, but we encourage you to make your own healthcare decisions based upon your research and in partnership with a qualified healthcare professional.
- MTHFR gene variant | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
- Laura Dean, MD.Methylenetetrahydrofolate Reductase Deficiency – Medical Genetics Summaries. Pratt VM, Scott SA, Pirmohamed M, et al., editors. Bethesda (MD): National Center for Biotechnology Information (US); 2012-. [PMID: 28520345]. https://www.ncbi.nlm.nih.gov/books/NBK66131/