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What Is An MTHFR GENE Mutation?

The MTHFR gene is becoming more and more well known because of its association with so many health issues.  But to understand the MTHFR gene we need to first understand what a gene itself is. 

What Are Genes Anyway?

A gene is a single unit of heredity. These units are made up of Deoxyribonucleic Acid, or DNA and carry the instruction to make biochemicals, mainly proteins.  The instructions are written in the DNA code called base pairs.  DNA is made up of the base pairs, guanine, cytosine, adenine, and thymine. The entire human genome has a stretch of billions of 10916747_s.jpgthese base pairs.  At specific areas within these billion of base pairs are the genes. The location and sequence of each gene is unique giving rise to genes of various lengths, sequence, and combinations of the base pairs. Regardless of this uniqueness these genes carry the information to make proteins.  

A gene mutation or alteration then is a variation in the normal base pair sequence (known as the wild type or most common type). Technically speaking a mutation is something that is seen in very rare situations (less than 1% of the population) and a SNP (single nucleotide polymorphism) is a more common but still alteration in the normal base pair sequence.  

When a mutation or SNP occurs in the gene the resulting protein that is suppose to be made changes. This change can cause a slightly different protein or a majorly different protein. It all depends on how that one base pair change effects the ending protein shape.  With more shape change the protein is forced to behave differently and interact differently with the other biochemicals molecules in your body.  Since we are full of different biochemicals this can have a big impact on our health. It really just depends on how critical the effected protein is. This is where the MTHFR gene comes in. 


What Is the MTHFR Gene?

A big part of the "altered proteins" we are referring to are enzymes. These are not the enzymes our bodies use to digest food, per say, but the enzymes that help the body create and destroy the different biochemicals inside the body. MTHFR is one of these enzymes and it receives its instructions from the MTHFR genes. The MTHFR enzyme is part of a bigger process called methylation.  Methylation is critical for things like neurotransmitter production, cell membrane integrity, detoxification, energy efficiency and utilization, artery responsiveness, etc. The process of methylation occurs to change the activity level of a variety of different molecules. 

Because the MTHFR enzyme is a critical part of the methylation cycle, it has a big influence on all of these processes in the body.  So armed with that information we can answer our original question, what is an MTHFR gene mutation.  An MTHFR gene mutation is a change in the gene that codes for the MTHFR enzyme causing altered methylation.  The severity of the enzyme change will determine how altered the methylation process is and how symptomatic you are.

There are two main MTHFR genes, that when altered, impact the enzymes function. They are the C677T and A1298C. A snp in the first one creates more protein change than the second one leading to more health issues. So if you have a snp in the C677T gene does that mean your health is doomed? 



The Mutual Effect of Nature and Nurture

The fate of your health goes well beyond your genetics.  Some mutations cause changes in the biochemistry that are much more difficult to influence than others.  However, most of the biochemical changes that result from snp's and mutations are also influenced by the overall environment.  For instance, having a chronic infection could create similar symptoms and biochemical patterns as an MTHFR gene mutation. Certain toxic compounds could do this too. So if you have an MTHFR gene mutation detoxing your body from these would be very helpful in shifting your biochemistry back to a more normal state. 

Knowing and understanding your genetics can help you to make better choices and ultimately have better health.  For example, folic acid has been promoted for years by Obstetric doctors and others.  However if you have an MTHFR alteration, you could actually increase your chances of causing a neural tube defect or Spina bifida in your baby by taking folic acid.  MTHFR doctors advise to stay away from folic acid when a significant MTHFR alteration is present.  We recommend the same. If you need health guidance on MTHFR or other genetic alterations, give us a call or click on the link below. 


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Topics: MTHFR, nutrigenomics

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