Even though “MTHFR” might look like an abbreviation for a curse word, it’s actually short for methylene tetrahydrofolate reductase.
Methylene tetrahydrofolate reductase (MTHFR), is an enzyme that works as a catalyst for important biochemical reactions in your body. It converts folate (vitamin B9) into a form that the body can utilize, known as methyl-folate. Methyl-folate is critical in a process called methylation.
Methylation protects your body by repairing damaged cells, processing toxins and hormones, metabolizing B vitamins, and regulating neurotransmitters such as dopamine, serotonin and norepinephrine, which control mood, behavior, sleep and your overall mental health. Every single cell and tissue in your body experiences methylation.
Methylation creates methionine, which is key in repairing and regenerating cells, building proteins, detoxifying, controlling inflammation and helping your liver to process fats, among many other functions.
Most importantly, methionine produces glutathione, your body’s most potent detoxifier. Research has shown that those with autoimmunity and cancer have lower levels of glutathione compared to people without those conditions. Research has also found that glutathione is a potent anti-cancer agent.
An MTHFR mutation is a problem associated with poor methylation and enzyme production. MTHFR mutations affect every person differently, sometimes contributing to hardly any noticeable symptoms at all, while other times leading to serious, long-term health problems.
The MTHFR gene is inherited and passed down from parent to child. It is estimated that possibly as much as 14 to 20 percent of the population might have a more severe MTHFR mutation that impacts overall health.
The MTHFR gene mutation was discovered during the completion of the Human Genome Project. Researchers realized that people with this type of inherited mutation tended to develop certain diseases more often than those without the mutation, including various autoimmune illnesses, Alzheimer’s, atherosclerosis, autism and more.
There is still a lot to be learned about what this mutation means for people who carry it and go on to pass it along to their children. As the website MTHFR.net states, “Research is still pending on which medical conditions are caused by, or at least partially attributed to, the MTHFR gene mutations.”
What Is a MTHFR Mutation?
According to the Genetics Home Reference Library, “there are two main MTHFR mutations that researchers focus on most often. These mutations are often called ‘polymorphisms’ and affect genes referred to as MTHFR C677T and MTHFR A1298C.An MTHFR gene mutation can change the way some people metabolize and convert important nutrients from their diets into active vitamins, minerals and proteins. Genetic mutations can also alter neurotransmitter and hormone levels. In some cases, although not all, changes in how this enzyme works can affect health parameters, including cholesterol levels, brain function, digestion, endocrine functions and more.”
Mutations can occur on different locations of these genes and can be inherited from only one or both parents. Having one alternative form of a mutated gene is associated with increased risk of certain health problems, but having two increases the risk much more.
What Happens When the MTHFR Gene is Defective?
Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme which can make it more difficult to break down and eliminate not only synthetic folic acid but other substances like heavy metals. Since folic acid (B9) can’t be converted into the usable form, it can build up in your body, which can raise levels of homocysteine. Higher homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which is a potent antioxidant and which the body needs to remove waste.
This is all fairly new and we are just learning the extent to which this can affect our health, but there is strong evidence that because of the effect on methylation, it can increase cardiovascular disease risk, risk of cancer and risk of fetal development problems and more. It can also possibly cause or contribute to other problems like autoimmune disease, mental issues and more.
Here at Renewed Vitality, when it is indicated, we can order testing for MTHFR gene mutation and this is something you can discuss with your practitioner at your appointment. If such testing is positive, the treatment for the MTHFR gene mutation is very simple. It involves taking methylated vitamins: Methyl-Cobalamin (B12) and Methyl-Folate (B9). We offer these supplements in both of our offices.
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