MTHFR Gene Mutation

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What is MTHFR?

A big part of the "altered proteins" we refer to are enzymes. Not really the enzymes in the digestive tract, per se, but the enzymes that help the body create and destroy different molecules inside the body. MTHFR is an enzyme produced by the MTHFR genes and is part of a bigger process called methylation. In basic terms, the methylation process changes the activity level of various molecules. Methylation is critical for neurotransmitter production, cell membrane integrity, detoxification, energy efficiency and utilization, and artery responsiveness.

Alterations in the MTHFR enzyme interrupt the methylation cycle because it is a critical enzyme for methylation. The severity of the enzyme change will determine how slow the methylation process is. There are two main MTHFR genes that, when altered, impact the enzyme's function. However, there are several other enzymes in the process of methylation that can also affect the overall cycle as well.

Types of MTHFR Mutation

Two genes have the predominant effect on the MTHFR enzyme, and they are the C677T gene and the 1298C gene. The purpose of distinguishing these two mutations is so that doctors are better able to see the severity of the MTHFR mutation. The C677T mutation is the biggest influencer on the overall effects on the MTHFR gene.

  • Homozygous: This gene is passed down from both of the parents of the afflicted individual, leaving them with two altered copies.

  • Heterozygous:  MTHFR mutation is passed from just one of the parents.

  • Compound Heterozygous: One mutation is passed from one parent, and the other respective parent passes the other. In this case, the afflicted individual has one copy of the above-stated MTHFR genes.

Symptoms of an MTHFR Defect

Since an MTHFR defect causes abnormalities in normal processes of the human body, there are a wide variety of symptoms or side effects that can be triggered by it. For example, an MTHFR defect often causes high levels of homocysteine, which is associated with the following;

  • Cardiovascular disease

  • High blood pressure

  • Glaucoma

There is also strong evidence linking it to mental health disorders, migraines, Fibromyalgia, Chronic Fatigue, and many other health issues due to a slow down in methylation.

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