MTHFR Gene Mutation, Health & Fertility and Testing for It

More than 50% of people are affected by genetic mutations in the methylation pathway

Methylation plays an essential role in many chronic diseases. By understanding your genetics, you can prevent and address these conditions. With the right nutrition and pharmaceutical supplementation. It is best to get the guidance of a hormone replacement doctor or functional medicine specialist. You only have to test for this once to see if you have one or the two mutations. The mutations are C677T and/or A1289C.

What Is Methylation And Why Is It So Important?

Methylation is a vital metabolic process that happens in every cell and every organ in your body.  It takes place a million times a second. Life would simply not exist without it. Think of billions of little on/off switches inside your body that control everything from your stress response and how your body makes energy from food, to your brain chemistry and detoxification. That’s methylation.

For those of you who like to understand the ‘mechanics’ behind what happens in our body…  Methylation is a biochemical reaction that involves the transfer of a methyl group onto amino acids, proteins, enzymes, and DNA. The addition of a methyl group onto these molecules facilitates biochemical reactions vital to critical functions in our body such as:

  • Thinking
  • Repairing DNA
  • Turning on and off genes
  • Fighting infections and detoxification (especially in the liver).

It is also vital for the proper functioning of the Hypothalamic-Pituitary-Adrenal (HPA) axis and critical for the synthesis of all neurotransmitters.   Histamine, for example, the enzyme that converts norepinephrine to epinephrine is dependent on methylation for activation.

Why Should You Be Concerned About Methylation?

Methylation is involved in the following:

What Is MTHFR Gene Mutation?

Those with a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range from 20%-70% or more). This can make it more difficult to break down and eliminate substances like heavy metals. Individuals with the MTHFR gene mutation have difficulties processing B9 in the form of folic acid (commonly present in supplements and added to processed foods). This type of B9 may even cause a build-up in the body leading to toxicity which can raise levels of homocysteine.

Elevated homocysteine levels are associated with a higher risk of heart disease, inflammation, birth defects.  In addition, homocysteine (high levels of) can re responsible for difficult pregnancies, and potentially an impaired ability to detoxify. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant.  Many factors can contribute to the expression of the MTHFR mutation including; our environment, foods, chemical exposure & stress.

How Do We Get This Mutation?

The reason for the types of mutations is variations in the specific genes passed on from each parent. In other words, if both parents pass on a healthy gene, a person won’t have a mutation at all. If one parent passes on a healthy gene but the other passes on a mutated gene, several variations can occur. If both parents pass on a mutated form, there are many more scenarios that can occur.

The two most problematic mutations in the MTHFR gene that can occur are the following SNP’s: C677T and A1298C. While a ‘normal’ MTHFR gene would be C 677C (c= cytosine), a mutation has made the gene C 677T (t= thymine). The letter represents the nucleotide base and the number refers to the location of the mutation on the gene.

The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:

  • Homozygous: the same gene passed on from both parents – can occur if both pass on the 677 mutations or the 1298 mutation.
  • Heterozygous: one parent passed on the 677 mutations or the 1298 mutation but the other parent passed on a normal gene.
  • Compound Heterozygous: one parent passed on the 677 mutations and the other passed on the 1298 mutation.

Here is what each mutation actually affects and why you need to test for it if you want to live a long and healthy life?

  • MTHFR C677T mutation – Tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages and neural tube defects
  • MTHFR A1298C mutation – Tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia and mood-related problems.

How Could I Test For These Two Gene Mutations?

We made it simple and easy for you! At your convenience, give us a date and time and we’ll have one of our phlebotomists drive to your home or office to have your blood drawn. This test does not require any fasting as well. Once your blood is drawn, you will receive easy to read test results within one week. Once you have your results, our doctor will evaluate the results and make a recommendation on how to treat the mutation. If you come out negative then that is a big plus for you because you don’t have to ever worry about these gene mutation risk. However, remember that more than 50% of the population has one or both of these gene mutations so you should absolutely be testing for them. Call us for more information.


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