The acronym MTHFR may seem amusing, but the effects of the associated genetic mutation can be serious. Although it is relatively common, MTHFR mutations and their related health risks are still being researched. Here is what we currently know about MTHFR gene mutations and how they could affect the people who have them.
What is MTHFR?
MTHFR stands for methylenetetrahydrofolate reductase, an enzyme that is produced by the gene of the same name. MTHFR interacts with folate (vitamin B9) to break down the amino acid homocysteine. Once broken down, homocysteine is converted by the body into methionine, which is used in many important processes as such protein building.
Just like any gene, the MTHFR gene is susceptible to variants or mutations. All of us carry two MTHFR genes—one inherited from each parent. Therefore, people can have no variants, a variant in only one gene (heterozygous), or variants in both genes (homozygous).
C677T and A1298C are the two most common variants of the MTHFR gene and the subject of active research. Scientists estimate that approximately 25 percent of Hispanic Americans and 10-15 percent of Caucasian Americans have homozygous C677T variants, meaning that the biological effects that result from this mutation can have widespread consequences.
Conditions Linked to MTHFR Mutation
On the whole, an MTHFR mutation can cause the associated enzyme to function poorly or not at all. This can lead to the body being unable to break down homocysteine efficiently, resulting in elevated levels of the amino acid in the blood. It is believed that being heterozygous is less likely to lead to severe health issues than being homozygous.
Exceptionally high levels of homocysteine (hyperhomocysteinemia) cause folate levels in the body to be depleted. This can impede normal biological functions such as red blood cell production, cell repair, and DNA synthesis. It can also contribute to some severe medical conditions.
As studies into MTHFR is still ongoing, there is no definite proof of the diseases that MTHFR mutations can cause directly. However, some conditions are associated with MTHFR mutations and hyperhomocysteinemia, including hypertension, blood clots, heart disease, psychiatric disorders like schizophrenia, and certain forms of cancer.
In addition, MTHFR mutation is a risk factor that can lead to recurrent miscarriages, preeclampsia, or infants developing a neural tube defect such as anencephaly or spina bifida. Although neural tube defects are rare (0.1-0.2%), studies suggest that mothers with homozygous C677T variants are twice as likely to have a baby with a neural tube defect.
Testing for MTHFR Mutations
It is not standard screening procedure to test for MTHFR mutations. Furthermore, the value of a positive MTHFR variant result is up for debate as there is no consensus in the medical community about its direct implications. However, the MTHFR genotype test may help your doctor to figure out if your condition is related to your genetics.
An MTHFR genotype test may be recommended by your doctor if you have elevated levels of homocysteine with no discernable cause or if your homocysteine levels cannot be controlled with supplementation. You may also be advised to take the test if you or your family have a medical history of cardiovascular diseases at a young age.
Living with MTHFR
For most people, minor folate deficiencies caused by MTHFR malfunctions can be corrected by taking standard supplements. However, if your positive MTHFR mutation test result is accompanied by hyperhomocysteinemia and proven vitamin deficiencies, your doctor may suggest other medications or treatments to target certain diseases or disorders.
You should also consider changing your lifestyle to lower your homocysteine levels. Eat a healthy, balanced diet that contains folate-rich whole foods like dark leafy greens and lentils. Stay away from toxins like cigarettes and alcohol if possible. Support your body’s natural elimination pathways by staying hydrated and getting plenty of exercise.
People who suspect that they have mood and mental imbalances due to MTHFR variations should take measures to manage their stress. Adequate sleep, frequent exercise, and spending time in nature can help to improve your headspace. Relaxing activities like meditation can help you to decompress, stay grounded in the present, and relieve anxiety and stress.
Methylfolate Supplements
Sometimes, standard supplements and natural management techniques are simply not enough to offset the effects of an MTHFR deficiency. Certain versions of synthetic folate (folic acid) may not only be ineffective but counterproductive. In that case, you should add high-quality methylfolate supplements to your daily nutritional regime.
Methylfolate, also known as L-methylfolate, is the biologically active form of folate. This means that this compound has a proven capability to stimulate a biological reaction in your body. When you consume folic acid supplements or dietary folate, these compounds go through a long metabolic process and eventually become methylfolate.
If you suspect that you have an MTHFR mutation, taking a proprietary methylfolate supplement may address imbalances and alleviate perplexing symptoms that you have been experiencing for years. You cannot avoid your genetics but you can manage your condition. With a healthy lifestyle and careful supplementation, living with MTHFR is a walk in the park.