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Top 5 Questions About MTHFR

MTHFR is an acronym that stands for methyltetrahydrofolate reductase. It's a mouthful but a very important metabolic enzyme that controls many different reactions in our bodies. Everyone has the MTHFR enzyme but some of us have a mutated gene and thus altered enzyme. Knowing if you have a genetic mutation for this enzyme and which one you have can lead to dramatic changes in how you feel, process information, breakdown toxins, create energy, and many other critical functions in your body. Because of this enzyme's broad reaching effects it is one of the most common genetic alterations tested for. As it turns out this genetic mutation is quite common but the severity and significance varies. In this article we will look at these questions and other common questions about the MTHFR genetic alterations. 


What Does Having An MTHFR Mutation Mean?

When you have a mutation in your MTHFR gene it means that the enzyme does not work asMTHFR alteration cartoon efficiently as it should. How inefficient it works depends on which and how many mutations you have. There are two main possible genetic mutation that you could have. They are known as C677T and A1298C. The mutation that seems to alter the enzyme more is the C677T but having the A1298C gene can also alter the enzyme function but it has less of an impact on the enzyme function. 

The function of the enzyme is to convert inactive folate to active folate. When the enzyme is altered it takes on a different shape and can no longer create active folate as well. This can lead to many problems as will be discussed next. 


What Are The Most Common Problems Created By MTHFR Mutation?

There are many possible issues that can occur in the body as a result of an altered MTHFR enzyme. The most likely and common issues are related to mental health problems and problems with low energy. Here is a more through list of health conditions and symptoms associated with an MTHFR defect:

  • Chronic Fatigue
  • Depression
  • Anxiety
  • Bipolar
  • High Blood Pressure
  • Erectile Dysfunction
  • Headaches
  • Neuropathy, Numbness, etc
  • Dementia
  • Alzhemer's
  • Mental Fog


Are There Different Versions Of The Genetic Defect?

There are two main genetic alterations that you could have, C677T and A1298C. Because you have two copies of every gene, there are a few different possible combination of these genes you could have. The general idea is that you take on one copy from your mom and one copy from your dad. If mom and dad have no copies of the gene mutation, then you would not have any either. If they have two copies of one of the genetic mutations, then you would end up with one copy from each of them, etc. The mutation that seems to alter the gene more is the C677T. When you have one or two copies of this gene, your MTHFR enzyme will be reduced by approximately 70% and 30% respectively. This means the enzyme works at 70-30% less efficiency then someone with the normal genes. 



What Is The Right Dose Of Folate To Take?

The dose of folate you need is always going to depend on your unique situation. It is important to remember that MTHFR is only one of thousands of genes in your body. In some cases you could be made worse by taking folate so it is important to have a discussion with a health care provider that understands MTHFR. A doctor trained in this treatment understands that by correcting one genetic defect you may create other unforeseen and serious side effects.

That being said the dose is typically going to depend on your symptoms, medical history, your diet and lifestyle, the MTHFR genes you have, and other genetic alterations you might have. Sometime you may not need any folate other times you may need 3-5 mg. Diet and lifestyle play a big role in both suppling active folate to the body and making sure the other supporting enzymes are working optimally.


Do I Need To Follow A Specific Diet?

Just because you have a genetic alteration does not mean you have to do anything about it. However if you have symptoms that correspond to that genes function, then you will likely want to follow the advice of the medical experts regarding how to optimize that gene's function. When it comes to significant genetic alterations in the MTHFR gene, there are specific diet recommendations.

A specific diet might look a little different for different people and there are many approaches one could take with regard to optimal diet for MTHFR. However, the general rule of thumb is that you want to reduce the oxidative stress in the body to optimize the enzyme function and also increase the amount of dietary folate to bypass the enzyme. You can never go wrong by getting extra folate from your diet. Folate comes from dark leafy greens like kale, spinach, chard, mixed greens etc. 


Knowing and understanding your genetic defects can be very powerful tool in creating a customized treatment plan using nutrition and or medication. Genetics allow us to more deeply see the causes of disease and dysfunction. To learn more about your unique genetics and possible MTHFR mutations, send me a question in the comment section below or come in for a free consultation by clicking below. 


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