MTHFR Gene – Separating Fact from Hype

Ronit Mor, ND

It’s no secret that ancestry searches through personal DNA tests have been a hot topic over the past several years. If you’ve done any research on this current trend, there’s no doubt you’ve run across the controversial subject of the MTHFR gene. While there are hoards of conflicting information about the MTHFR gene, it’s important to dissect the fact from fiction.

What is the MTHFR gene?
MTHFR, abbreviated for methylenetetrahydrofolate reductase, is a gene we all carry. In fact, we have two copies of it—inherited from our parents. The MTHFR gene provides instructions for making the MTHFR enzyme. This rate-limiting enzyme is a key factor in the processing of amino acids, the building blocks of proteins. ​

While it doesn’t sound like much, this has garnered a lot of attention because of genetic mutation and claims of its effect within the body.

What is a MTHFR mutation?
Gene mutations don’t “just happen,” they’re inherited from your parents. If one or both of your parents have a variant of the MTHFR gene, then you will too. So what does this mean? In most cases…nothing. Some health professionals resort to using the MTHFR mutation as a scare tactic—blaming the mutation as the cause for everything from leukemia to schizophrenia—to get you to succumb to testing and treatment, but presenting truth through facts and studies should illuminate you more on the subject.

The variants which have been under debate and scrutiny are C677T and A1298C. These variants are common. According to a study, published in American Genetics Summaries, about 25% of Americans who are Hispanic, and 10-15% of Americans who are Caucasian have two copies of C677T gene variant.

The main issue with this genetic mutation is that it may promote high levels of homocysteine in the blood and low levels of folate. This may be a concern, but it’s rare for an elevated level of homocysteine to be caused by having two variants alone. If your levels are high, it’s important to check for a more predominant source, such as:

• Hypothyroidism
• Diabetes
• High cholesterol
• Obesity
• Medications
• Nutrient deficiencies
• Smoking
• Physical inactivity

Many claim that this variant causes venous thrombosis or heart disease, but a study, published in the PLOS journal, has not found an association between moderately elevated homocysteine levels and the risk of venous thrombosis or the risk of coronary heart disease.

Homocysteine levels may rise in those with or without the MTHFR variant simply because they are deficient in folate and B vitamins. But this is an easy remedy considering all you have to do is incorporate food rich in these nutrients into your diet. Such foods packed with these vitamins are leafy green vegetables, nuts, eggs, poultry, sea food, and red meat.

It’s suggested that women with two C677T gene variants are twice as likely to have a child with a neural tube defect, but a study shows the actual risk is far less than 1%.

Should I get tested for the MTHFR mutation?
Various health organizations—including the American College of Obstetricians and Gynecologists, College of American Pathologists, American College of Medical Genetics, and American Heart Association—don’t recommend testing for variants unless a person also has very high homocysteine levels or other health indications.

If you prefer going the traditional route of requesting a test through your primary care physician, then it should be noted that most insurance carriers will not cover this type of testing, and you would be forced to pay the entire charge which can be around $1,000.

Fortunately, there are at-home DNA kits readily available. Two popular options are:

• 23andMe — This  testing provides genetic ancestry and health information. To perform this test, you deposit saliva into a tube and send it via mail to a lab. Results take six to eight weeks.
• My Home MTHFR — This testing specifically focuses on the mutation. The test is performed by collecting DNA from the inside of your cheek with swabs and sending it via mail to a lab. Results take one to two weeks.

If I have the MTHFR gene mutation what’s important to know?
It’s best to discover if the MTHFR mutation is truly impacting your health. Most mainstream science experts agree that having the variant doesn’t specifically mean it’s affecting the body’s system.

Treatment should hinge on whether a person has ALL of the following together:

• High homocysteine levels (may indicate a problem with methylation or a deficiency of B12 or folate)
• A confirmed MTHFR mutation
• Vitamin deficiencies in folate, choline, or vitamins B-12, B-6, or riboflavin

If you’re experiencing all three of these indicators, then here are some practical tips for living life to the fullest with a MTHFR gene mutation:

1. Supplement to address deficiencies along with medications or treatments to address the specific health condition.

1. Avoid taking folic acid blocking or depleting drugs, such as birth control pills or Methyltrexate.

1. Avoid taking proton pump inhibitors, like Prilosec or Prevacid, or antacids, like Tums, which may block essential Vitamin B12 absorption.

1. Avoid eating processed foods—many of which have added synthetic folic acid.

1. Follow healthy nutrition guidelines by eating leafy greens and cruciferous vegetables on a daily basis, sticking to organic, non-geo produce and certified-humane, pastured, grass-fed, hormone-and-antibiotic-free meat/poultry/seafood.

1. Minimize heavy metals exposure by only drinking purified water, removing any mercury amalgams with a trained biological dentist, avoiding aluminum exposure in antiperspirants or cookware. 

1. Stop smoking. The cadmium in cigarette smoke is a toxin that slows down the methylation process.

Like stated earlier, most will not be negatively affected as a result of having the MTHFR variant. As a far warning, some alternative practices have been known to exaggerate repercussions of having this variant without actual study to back their claims. 

Don’t let hype or fear pressure you into believing something that’s unproven. The MTHFR gene variant has been passed on for generations and generations. It’s nothing new. However, it’s been brought to light because of deficiencies within our diet. So take courage, do research for yourself, and make living a healthy lifestyle a priority.