What is a MTHFR Gene Mutation?

What is a MTHFR Gene Mutation?

One of the latest “buzz” words in the anti-aging and functional medicine fields is MTHFR, an acronym for one of the more than 20,000 genes in the body, methylenetetrahydrofolate reductase. Most people have two copies of the MTHFR gene, and when one or both are defective, as occurs in up to 40 percent of the population, it can have a significant impact on your health, as scientists are learning.

In fact, MTHFR gene mutations (aka, MTHFR gene defects) may be behind the health problems millions of people live with every day or seriously increase the risk of such challenges occurring. This realization is prompting more and more experts and patients to ask, what is the MTHFR gene and what should everyone know about it?

That’s what we tackle in this article. Two other essential questions we will answer in subsequent articles are (1) how to know if you have a MTHFR gene mutation; and (2) what you can do about it (i.e., living with an MTHFR mutation).

What is the MTHFR gene?

The following explanation is a bit technical, so bear with me. The MTHFR gene provides instructions for making methylenetetrahydrofolate reductase, an enzyme that breaks down folic acid (vitamin B9) and transforms it into methyl-folate, the bioactive form of the vitamin. If this process does not occur smoothly, any number of health issues can arise. For example, women who possess two specific MTHFR gene defects have an increased risk of giving birth to a child with a neural tube defect, such as spinal bifida.

More specifically, methylenetetrahydrofolate reductase converts 5,10-methylenetetrahydrofolate to 5,methyltetrahydrofolate. This activity is necessary for the complex process that changes the amino acid homocysteine (a substance that is detrimental to the body) to another amino acid, methionine, which is used to make proteins and other important compounds.

There are about 50 different variants of MTHFR mutations. You can have several different variants and they can affect either one or both MTHFR genes. Genetic variations in DNA sequencing are called single nucleotide polymorphisms (SNPs). When people have SNPs in genes that code for MTHFR, the result is variants or alleles of the gene and an enzyme that isn’t as active as a healthy one would be.

What’s the skinny on MTHFR gene defects?

Although many MTHFR alleles have been identified, the two that have been studied the most are C677T and A1298C. Let’s use C677T as an example. About half of the population may possess one copy of this allele (aka, heterozygous C/T) while up to 25 percent may have inherited two copies (aka, homozygous T/T). S imilarly, some people have inherited one copy of the A1298C allele (aka, heterozygous A/C) while others may have two copies (aka, homozygous C/C). Other combinations are possible; these are just two examples. (More details will be covered in a subsequent article on identifying MTHFR mutations.)

What is methyl-folate?

Healthy MTHFR genes are essential for the production of methyl-folate, which is a key component of a process known as methylation. Nearly every system in the body depends on methylation, the process of adding a methyl group to a compound, typically a protein. Once the methyl group is attached to a protein, it alters how the now methylated protein interacts with other substances in the body and thus impacts the body’s function, including the immune system.

Methylation is involved in the following bodily activities-and this isn’t a complete list!

  • Repair of DNA, cells, and tissues
  • Production of neurotransmitters that have a key role in sleep, behavior, memory, and mood
  • Control of homocysteine (an amino acid that damages blood vessels)
  • Alteration of heavy metals and toxins
  • Regulation of protein function and how gene characteristics are expressed
  • Help with how the liver processes fats
  • Plays a key role in fighting inflammation
  • Activates and maintains immune system function, including the production of the super antioxidant glutathione

Read more about methylation

Essentially, people who have an MTHFR defect produce 30 to 70 percent less methyl-folate than those who don’t have a mutation. That deficit translates into difficulties with methylation.

More on methylation and mutations

When the body makes an abnormally low amount of methyl-folate, the result is lower methylation, which in turn leads to a greater risk of developing health problems and diseases as well as less than optimal functioning overall. Impaired methylation has been associated with a wide range of health issues, from aging to autoimmune diseases.

More specifically, a C677T mutation is typically associated with anemia, blood clots, congenital birth defects, heart disease, miscarriages, peripheral neuropathy, and stroke, among other conditions. Mutations of A1298C are more often associated with chronic conditions such as Alzheimer’s disease, chronic fatigue syndrome, depression, fibromyalgia, irritable bowel syndrome, and migraines, among others.

We don’t say these things to frighten or discourage you; in fact, if you discover you have a MTHFR gene defect (and we discuss how you can find out in a subsequent article), you can view it as an opportunity to take charge of your life. Knowing about your MTHFR status gives you the tools you need to make positive changes in your health and your life.

In the next article, we will explain why it’s important to test for MTHFR gene defects and the various ways you can do so. You can even discover how to decipher your test results on your own (but we still recommend consulting with a knowledgeable physician).

SourcesAsprey D. The MTHFR gene mutation and how to rewire your genetics. BulletProof

DiLuglio BE. Understanding MTHFR genetic mutation. PreviMedica

Fresh Idea Mama. MTHFR

Genetic and Rare Diseases Information Center. MTHFR gene mutation

Pennisi E. ENCODE project writes eulogy for junk DNA. Science 2012 Sep 7; 337:1169

Trimmer EE. Methylenetetrahydrofolate reductase: biochemical characterization and medical significance. Current Pharmaceutical Design 2013; 19(14): 2574-93

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