Genetic testing has recently become commercially available and relatively inexpensive, enabling millions of people to find out more about their ancestry and health risk factors.
Sometimes DNA test results can sound alarming and point to various diseases, making you question the state of your health. Mutations in MTHFR are among the most queried by 23andMe customers. These genetic variants have received a lot of attention due to their relationship with vitamin B metabolism and its deficiencies. Let's try and clarify just what's going on here.
» Start your research here - find out how much a DNA test costs.
So, What Is the MTHFR Gene Mutation?
Your body uses Methylenetetrahydrofolate reductase (MTHFR) to convert vitamin B (or folate) into the amino acid methionine, one of the building blocks for proteins that make your body function every day.
Each of us has two copies of this gene, one per chromosome. It is possible you have one of the two naturally occurring variants, called C677T and A1298C. In fact, 20-40% of white and Hispanic individuals in the US carry C677T mutation. Defective enzymes can cause folate deficiency and increased levels of homocysteine in the blood.
Homocysteine levels beyond 60 umol/L pose a risk for cardiovascular issues and pregnancy complications, called hyperhomocysteinemia. Other conditions like depression, anxiety, and autoimmune diseases have been suggested to link to this, but evidence remains limited or conflicting, according to the American Heart Association (AHA).
1. When to Test for Mutations in MTHFR
In general, it is not suggested to perform genetic testing for mutations in MTHFR, since most mutations cause no visible symptoms, and the most common mutations cause mild symptoms, which can be managed by a healthy lifestyle (see below).
In rare cases, severe hyperhomocysteinemia can occur despite proper nutrition. Additionally, factors like smoking, advanced age, diabetes, obesity, and physical inactivity impact folate metabolism, and not just genetics. Thus, consulting your doctor before and after the test is vital. They'll assist in result interpretation or recommend a specialist if needed.
2. What a Genetic Test Can Tell You
Beyond the discussed variants, there are MTHFR mutations that can be linked to more severe symptoms. There are other gene mutations that also affect folate metabolism and homocysteine levels. Genetic testing companies can show in detail the mutations, risks, and gene count you carry and help you identify a variety of risk factors.
3. What a Genetic Test Can Not Tell You
There's been significant discussion about the connection between MTHFR mutations and a higher risk for vascular diseases, infertility, and Alzheimer's Disease. However, only a connection to Alzheimer's Disease has been confirmed.
A genetic test alone cannot determine if you have a chronic illness. Mutations typically suggest an increased risk of a disease, not a direct cause. Therefore, it's essential to seek a doctor's advice when interpreting test results.
4. Identify What Mutation You Have
Before considering therapy or dietary changes, you should identify if you even carry the mutated gene. There are 14 known MTHFR enzyme activity-reducing mutations, including rare and common ones like C677T and A1298C, called polymorphisms.
Carrying these doesn't mean you're not producing vitamin B; it only implies reduced MTHFR efficiency. A recent scientific article mapped the potential effects of all MTHFR gene mutations, distinguishing severe deficiencies from harmless ones. Specialists can clarify whether your mutation is harmful.
5. What to Expect if You Carry C677T or A1298C
Mutations C677T and A1298C are prominent MTHFR polymorphisms and are being extensively researched. The medical consensus is that they don't lead to severe clinical issues but rather act as risk factors for cardiovascular disorders. Recently, they were linked to depression and anxiety, though this connection is debated.
Carrying these two mutations can also contribute to vitamin B deficiency. Symptoms of folate deficiencies include fatigue, shortness of breath, constipation, loss of appetite, weight loss, muscle weakness, numbness, tingling or pain in hands or feet, dizziness or loss of balance, mouth sores, and mood changes.
» Learn more about your family, and how your ancestry influences your health.
6. Mild Folate Deficiency Can Be Resolved With a Healthy Lifestyle
A healthy diet and lifestyle can help prevent or even reverse most symptoms of vitamin B (folate) deficiency. Foods rich in folate include green leafy vegetables like spinach, kale, broccoli, and brussels sprouts, as well as beans, lentils, nuts, seeds, citrus fruits, juices, eggs, and liver. Folic acid, which is the synthetic form of folate, is available in supplements.
To keep your folate levels optimal, it's essential to maintain a balanced diet, especially if you are at risk for folate deficiency.
7. Exercise! Physical Activity Does Not Decrease Your Folate
Previous research implied that vigorous physical activity in young women might reduce vitamin B levels, potentially posing risks to newborns. However, subsequent studies have debunked this theory, demonstrating that physically active women maintain consistent vitamin B levels. In fact, mild to moderate exercise has been shown to boost folic acid levels in the bloodstream.
Engaging in mild to moderate exercise, combined with a balanced diet, can help regulate your vitamin B levels and promote overall health.
8. Take Your Folate During and Before Pregnancy
If you are a woman planning to get pregnant, it's important to have a higher intake of folate in your diet to prevent the developmental issues in the newborn (regardless of genetic mutations).
Folate is crucial for forming the neural tube, developing the baby's brain and spine. Inadequate development can lead to spina bifida, causing disabilities like paralysis, bladder and bowel problems, learning difficulties, and excess fluid in the brain.
The Centers for Disease Control and Prevention (CDC) advises all women of reproductive age to take 400 micrograms of folic acid daily, along with folate-rich foods. This is especially crucial if you're at risk of folate deficiency.
9. Correlation Between Depression, Anxiety and MTHFR Mutation Is Not Clear
Recent studies conflict with linking C677T and A1298C mutations to depression and anxiety. Success in self-medicating with folinic acid for anxiety, tied to MTHFR polymorphisms, remains isolated; improvements might result from factors besides folinic acid. Conversely, medical cases show folate deficiency medication worsening depression.
Anxiety and depression are complex conditions, and research is still actively trying to understand the causes. If you suffer from them, don't focus your worry on your genetic background, rather go for the advice of an expert.
10. If You Don’t Carry Any of These Mutations and Still Have Symptoms of Folate Deficiency: Is the Genetic Test Wrong?
The answer is no—genetic tests are more likely to have false positives than false negatives. When interpreting results, consulting a specialist is vital. Doctors determine if further tests are necessary after a positive result. If no mutations are shown, you generally shouldn't have those mutations.
Symptoms of low folate (i.e. high homocysteine in your bloodstream) can stem from various causes. Folate and homocysteine levels fluctuate widely over time. Elevated homocysteine isn't solely tied to genetics; lifestyle factors like smoking, inactivity, obesity, and aging contribute. Addressing this involves dietary improvements (more greens, healthy fats, proteins), better sleep, and physical activity.
Eat Well, Live a Balanced Life, and Don’t Worry About Your Mutations
While there are important reasons for getting a DNA test, a test positive MTHFR mutation test shouldn't lead to quick conclusions. Most mutations aren't disease-related; some cause mild folate deficiency, and are in no way life-threatening. However, it's better to be safe than sorry, so choosing one of the testing options at a reputable test carrier, such as 23andMe or Futura Genetics, can at least take the overthinking away.
Do keep in mind that severe effects from MTHFR mutations are rare. And as with most things, a mild deficiency can be managed with a change in lifestyle, with a folate-rich diet and exercise.
» DNA test can show you more than your flaws - test for advice on improved performance!
