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MTHFR Gene Mutation

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What is MTHFR?

MTHFR is an enzyme necessary for an important metabolic process called methylation.It is this process that converts folate and folic acid into an active form the body can use. The MTHFR gene produces this enzyme, but a genetic mutation can inhibit its function. This enzyme is also important for converting homocysteine to methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation. Those with a MTHFR gene mutation, may have trouble effectively eliminating toxins from the body.

Those of us with a MTHFR gene mutation have a highly reduced ability to convert folic acid or even folate into a usable form. Research estimates that as much as half of thepopulation may have an MTHFR gene mutation, though there are many variations of the mutation, depending on how the gene was passed down from the parents.

Individuals with low activity on their MTHFR enzyme present with elevated homocysteine levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, and potentially an impaired ability to detoxify.

Identifying a potential MTHFR defect is especially important for women of childbearing age, as this defect can increase the risk of many problems in an unborn child, including folate related disorders like Spina Bifida.


Types of MTHFR Mutations

There are many different possibilities when it comes to MTHFR gene mutations and science is still working to understand them all.

The reason for all 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 scenarios that can occur. The two most problematic mutations that can occur are C677T and A1298C, which can denote the placement of the mutation on the gene.

What Happens When the MTHFR Gene is Defective?

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 not only synthetic folic acid but other substances like heavy metals.

Since folic acid can’t be converted into the usable form, it can build up in the body, which can raise levels of homocysteine. High homocysteine levels are associated with a higher risk in cardiovascular disease. This also affects the conversion to glutathione, which the body needs to remove waste and which is a potent antioxidant.

In short, we are just learning the extent to which can affect health, but there is strong evidence that because of the effect on methylation, it can increase cancer risk, cardiovascular disease risk, risk of fetal development problems and more. It can also possibility contribute to or exacerbate other problems like autoimmune disease, mental issues, and more.

How to Get Tested for MTHFR Gene Defects?

Although there are many symptoms that can be associated with an MTHFR defect, the symptoms can vary widely from person to person and only a test (blood or saliva) can verify a gene defect and the type.

I recommend that you consult with a naturopathic physician, practitioner, or dietitian who is familiar and knowledgeable with the genetic test when concerned about having a MTHFR genetic mutation test. You may also get a test done through 23andMe.com and Ancestory.com which are the largest and most reliable companies. These companies will provide you will a huge amount of raw data and details about your ancestry. Please just note that no genetic testing companies are allowed to interpret medical information up front, due to the new FDA regulations.

If you already know you have a MTHFR mutation,​ especially more than one copy
(homozygous or compound heterozygous), then I believe you should be notifying all your siblings and relatives - and parents and children.

Why we should be concerned about MTHFR gene mutation relating to dental work:

Those people with gene mutations especially with a double recessive gene (received from both parents) are at a higher risk of an inability to detoxify. Which means, removing mercury fillings need to be taken care of by both a physician and a biocompatible dentist. They need more restricted protocols for mercury filling removal. Please contact our office for more information

The following sources can provide you with more information regarding MTHFR Gene Mutations

     1. www.MTHFR.net
     2. www.seekinghealth.com
     3. www.drbenlynch.com
     4. www.23andMe.com
     5. www.ancestry.com
     6. www.geneticgenie.org

This article was written with courtesy of the sources below:
     ● Joe Leech, Dietitian
     ● www.wellnessmama.com
     ● www.drbenlynch.com