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What is an MTHFR Mutation?

What is an MTHFR gene mutation

When you have an autoimmune disease ( as ), is arriving to learn a new language when it comes to your health. Terms like TSH, flare, leaky gut and triggers become part of their vocabulary. A term I have received many questions about recent times and that deserves attention is finally getting is: MTHFR


What is the MTHFR

MTHFR is an enzyme that adds a methyl group.? folic acid to be usable by the body. The MTHFR gene produces the enzyme that is necessary for the proper use of vitamin B9. This enzyme is also important for the conversion of homocysteine ​​to methionine, the body needs for proper metabolism and muscle growth and is necessary for creating glutathione. The methylation process also involves the enzyme MTHFR gene, so those with a mutation may have trouble effectively remove toxins from the body

The Genetics Home Reference provides more detail :.

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing of amino acids, the building blocks of proteins. methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folic acid (also called Vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methylenetetrahydrofolate. this reaction is required for multi-step process that converts homocysteine ​​amino acid with another amino acid, methionine. The body uses methionine to produce proteins and other important compounds.

Contrary to what seems “MTHFR” is not an abbreviation for a word curse, but a shortened form of methylenetetrahydrofolate reductase … Are not you glad abbreviated?

I touched on the importance of the MTHFR enzyme briefly in my post about folic acid vs. folate and why I am careful to avoid synthetic folic acid in supplements and foods.

Those of us with a mutation in the MTHFR gene have a reduced ability to convert folic acid or folate, even in a usable form. The research estimates that as much as half the population may have a mutation in the MTHFR gene, although there are many variations of the mutation, depending on how the gene is passed from parents. More on this later.

problems of MTHFR mutation


Izabella Dr. Wentz explains how the MTHFR mutation can affect those who have it

individuals with low activity of the MTHFR enzyme may have elevated homocysteine ​​levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, and potentially impaired ability to detoxify.

nutrient deficiencies in folic acid, B6 and B12 have been associated with elevated homocysteine ​​levels.

individuals with the MTHFR gene actually have a difficult time processing folic acid is present in cheaper supplements and processed foods is added. Some professionals say that this type of folic acid may even cause an accumulation in the body leading to toxicity. There have been studies that showed folic acid supplements increase the risk of cancer … one more reason to get rid of processed foods and multivitamin!

Some naturopaths like Dr. Wilson Doni suspect that persistent fatigue, fogginess, anxiety, sleep problems and inability to deal with alcohol and other toxins may actually be the result of a mutation underlying genetic, as the MTHFR mutation. She explains how this affects many aspects of health and how stress is an aggravating factor

ON folate (called 5mTHF) will give its methyl group to other nutrients and substances -. “methylation” a process called necessary for the creation of every cell in your body, so if not properly activated, you can imagine what would be a major problem. 5mTHF, along with several other nutrients, is also used to create and neurotransmitters (messengers in the nervous system process such as serotonin, epinephrine, norepinephrine and dopamine); create immune cells and process hormones (such as estrogen); as well as for energy and detoxify chemicals

Stress, in all its forms, inhibits this “methylation” -. methyl transfer from 5mTHF to other substances. So when you are under stress, it is especially important to provide the nutrients needed for these processes.

To clarify further, the liver is a system further processing, which involves a number of enzymatic pathways, including methylation, which in turn nutrient another and toxins in non toxins, preparing all for use and / or expelled by the body. When you drink alcohol, your liver is working to process through methylation, but if your nutrients are depleted or are stressed, your liver will not be able to complete the process effectively, which leads to the symptoms associated with a hangover.

identifying a possible defect MTHFR is especially important for women of childbearing age, and that this defect may increase the risk of many problems in an unborn child, including those related to folate disorders such as spina bifida.

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Types of MTHFR mutation

There are many different possibilities when it comes to mutations of the MTHFR gene and science is still working to understand them all. I have included links to more resources in depth below, but there are several common mutations that can occur.

The reason for all types of mutations is transmitted variations in specific genes from each parent. In other words, if both parents pass on a healthy gene, a person has a mutation at all. If a parent happens in a healthy gene but the other goes in a mutated gene, several variations may 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 C 677 T and A 1298 C, denoting the placement of the mutation in the gene. The most common forms of MTHFR mutation involving various combinations of these genes are transmitted from each parent:

  • Homozygous same gene is passed from both parents can occur if both pass the mutation 677, or mutation 1298
  • Heterozygous :. one parent transmits the 677 mutation or mutation 1298, but the other parent passed in a normal gene
  • compound heterozygotes: .. one of the parents last 677 mutation and the other transmits the mutation 1298
  • other more advanced and rare mutations.

What happens when the MTHFR gene is defective?

which have a defective MTHFR gene have an impaired ability to produce the MTHFR enzyme (estimates range 20% -70% or more). This can make it harder to break down and eliminate not only synthetic folic acid but other substances such as heavy metals.

Because folic acid can not be converted into usable form, can accumulate in the body, which can raise homocysteine ​​levels. High levels of homocysteine ​​are associated with an increased risk of cardiovascular disease. This also affects the conversion of glutathione, the body needs to eliminate waste and that is a potent antioxidant.

In short, we are only learning to the extent that this can affect health, but there are strong indications that due to the effect on methylation, which may increase the risk of cancer, the risk of disease cardiovascular, the risk of fetal problems and development. It can also help to increase or exacerbate other problems such as autoimmune diseases, mental problems and more.

MTHFR.net Dr. Ben Lynch has an exhaustive list of conditions that have been abel to link a defect in the MTHFR gene.

How to make the analysis of gene defects MTHFR

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

Janie to stop the madness of the thyroid compiled a list of ways to get tested. Local doctors are able to run these tests too, but not all doctors are well versed in matters of MTHFR deliver …

Dr. Amy Yasko will test about 30 (methylation single nucleotide polymorphisms) SNP here . You may need a prescription. It is considered to be a very accurate test.

A similar thing you can do on your own with saliva … and is highly recommended and is popular … 23andMe . It is claimed that lose 5 SNP that Yasko not perish, but is cheaper and still excellent test. NOTE: 23andMe states the following:

23andmeprovides genetic ancestry-related reports and raw genetic data is not interpreted. We no longer offer our genetic health-related reports . That does not mean you will not get what you need. After the results 23andMe return, you will get “raw data”. You will load that data for any of the following, which in turn will give you what you need:

  • Genie genetics to be seen in their genetic methylation by just reading your 23andMe raw data.
  • Nutrahacker will tell you what supplements to take, and what more besides to be avoided because their mutations. It is very interesting!

large amount of genetic information can be obtained from Promethease.com

Another good test to see what processes can not be doing their job properly methylation Roads Panel . And here it is debate about this.

I have a good chain about testing methyl-way test vs genome here.

I personally have experience with testing cell Spectra and Pathway Genomics .

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although it is not possible to change a gene, are not things that can be done to minimize the potential for problems or to help avoid problems in children (before and during pregnancy of the mother). As I said, the research is still developing in this, but some things I find personally useful are:

MTHFR video

This video with Dr. Alan Christianson and Dr. Ben Lynch offers many details of the MTHFR and how it affects health.

further reading

If you are new to the MTHFR and overwhelmed as I did, here are some great resources for further reading:


https: //www.ncbi.nlm. nih.gov/pubmed/11683544
http://www.bmj.com/content /328/7455/1535
https: //www.ncbi.nlm.nih.gov/pubmed/22492374

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