What is the MTHFR Gene? Should I be Concerned for My Health?

With the MTHFR gene getting more attention in recent months, it’s natural to wonder just how big of a health concern this gene might be. To truly understand the potential health risks of having a defect in the MTHFR gene, it’s important to understand what exactly the MTHFR gene does, and how it plays into the methylation cycle.

The Methylation Cycle

Methylation in its simplest form is the transfer of a CH3 group from one compound to another. These chemical transfers act as switches, regulating a wide array of natural bodily functions, including DNA production, detoxification, neurotransmitter production, liver health, cellular energy, and fat metabolism just to name a few. The methylation cycle is essentially a series of reactions that form the required compounds in the body to necessitate proper methylation.

A universal methyl donor known as S-adenosylmethionine (SAMe) readily gives away its methyl group to other substances. This enables various body systems to properly perform their functions. The system that produces the SAMe is heavily reliant on 5-MTHF (active folate or methylfolate), a critical B vitamin. If enough 5-MTHF is present, the methylation cycle will work efficiently.

The presence of 5-MTHF fuels the methylation cycle, starting a series of chemical reactions in the body transporting these methyl groups from the SAMEs to various body systems. A series of genetic sequences are responsible for converting and properly utilizing these methyl groups throughout the body. For example, the MTHFR gene sequence is essential for the conversion and implementation of these methyl groups to create BH4 and BH2, which are related to tyrosine and tryptophan production. These two neurotransmitters play a heavy role in the production of serotonin and dopamine.

How This Affects You

While the science behind how the methylation cycle works and how all the biochemical reactions interplay with one another can be very interesting to dive into, what does all this mean from a practical standpoint and how does this system, or in the case of the MTHFR gene a defect in this system, affect your health? Since the methylation cycle has so many components that can be affected depending on what kind of defect is present, the symptoms and effects can vary from person to person.

If the defect in the MTHFR gene causes you to hypermethylate, or produce too much 5-MTHF, other sections of the cycle may pick up the slack in some areas. If you do have an issue with hypermethylation, your body will produce too much methionine, which can lead to other problems. One key problem, which can also be used as a diagnostic tool for catching the defect, would be the effect too much methionine has on red blood cells.

The excess methionine will cause hemolytic activity in red blood cells. This means that when your red blood cells die, they will slice open, releasing bilirubin into your bloodstream. This excess bilirubin can cause a strain on the liver as it works to purge it from your system, and if the buildup becomes severe enough, other symptoms such as jaundice or yellowing of the skin and eyes can appear.

Since there is a wide variety of amino acids affected by the methylation cycle as well, other systems can also be affected. Depending on the amino acid which becomes deficient via the hypermethylation if not compensated, other issues that can occur include immune system detox issues if glutathione is low, frail hair and hair loss if cysteine is low, and digestion and issues and a lower bile salt production if taurine is low.

How To Combat MTHFR Defects

Luckily, the best ways to combat defects in the MTHFR gene are through diet and lifestyle changes. Since the issue is primarily biochemical, removing food substances that feed into the production of methionine as well as the addition of chemicals that help purge the body of bilirubin and methionine naturally help dramatically. Most people with methylation issues are put on strict diets to avoid sulfur-based foods, as the sulfur is broken down in the body and ultimately aids in producing more methionine.

This combined with dietary supplements usually is enough to counteract the defect to a point where you can have a relatively more functional lifestyle. Since it is a biochemical issue and everyone is different, there may be slight differences in what is the best diet for you compared to others with the defect, depending on what the exact defect is.

Testing for the defect is also fairly simple. By using a Mthfr Home Test Kit you can quickly learn if you have the MTHFR gene, along with defects in any of the other four genes that play a heavy role in the methylation cycle. The methylation cycle also plays heavily into the adrenal system, so if you suffer from adrenaline issues such as triggering a fight or flight response from mundane problems, or having a fluctuating energy cycle where you go from high energy to crashing, you may also want to get tested just in case.

While the MTHFR gene’s effect on a person’s overall health can vary from person to person, ranging from a mild annoyance affecting overall energy to a severe issue causing massive strain on the liver if not kept in check, treatment for the MTHFR gene is thankfully simple, from a medical standpoint. Maintaining a proper diet to combat the defect can take a lot of discipline, as the number of foods containing sulfates is staggering, but it is certainly doable.

With proper treatment, the MTHFR gene poses relatively low health concerns in terms of long term damage or being deadly, but is more akin to something like diabetes, where it is likely going to be a lifelong condition that will have to be maintained through proper diet to prevent it from affecting your daily life.

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