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What is MTHFR?
MTHFR, is the name of both a gene and the enzyme which that gene helps your body to make. We call it MTHFR because the actual name, methylenetetrahydrofolate reductase
MTHFR is an enzyme that adds a methyl group to folic acid to make it usable by the body. The MTHFR gene produces this enzyme that is necessary for properly using vitamin B9. This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation . The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
What Are The Possible MTHFR Mutations?
There are TWO MTHFR genes, the MTHFR-C gene and the MTHFR-A gene and you have two copies of each of these (one from your mother and one from your father). This means there is a whole variety of ways that things could go wrong… Let’s look at those here:
Remember that the mutation can be re-written with both letters at the end (for example C677T = 677CT) or even just the letters with no numbers (for example CT or TT):
- MTHFR C677C = normal MTHFR gene
- MTHFR C677T = heterozygous mutation (one mutation)
- MTHFR T677T = homozygous mutation (two mutations)
- MTHFR A1298A = normal MTHFR gene
- MTHFR A1298C = heterozygous mutation (one mutation)
- MTHFR C1298C = homozygous mutation (two mutations)
- MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation
The MTHFR nucleotide at position 677 in the gene has two possibilities: C (cytosine) or T (thymine). C at position 677 (leading to an alanine at amino acid 222) is the normal allele. The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile enzyme with reduced activity.
Individuals with two copies of 677C (677CC) have the most common genotype. 677TT individuals (homozygous) have lower MTHFR activity than CC or CT (heterozygous) individuals. About ten percent of the North American population are T-homozygous for this polymorphism.
What Is Heterozygous and Homozygous MTHFR?
MTHFR mutations are typically referred to as heterozygous or homozygous.
The prefix “hetero” means different.
The prefix “homo” means same. Zygous just refers to degree of similarity.
In genetics, hetero- and homo- refers to the two alleles on the gene. For example, for C677T the alleles are C and T, which are different and therefore heterozygous.
Heterozygous MTFHR means you have one copy of the mutant allele on the MTHFR gene.
Homozygous MTHFR mean you have two copies of the same mutant allele, which is considered more severe. It looks like this T677T, although it is typically just referred to as homozygous C677T.
So homozygous C677T actually means T677T.
There is also compound heterozygous, which is when you have one mutant allele on both the 677 and 1298 base position.
Reaction and metabolism
The overall reaction catalyzed by MTHFR is illustrated below. The reaction uses an NAD(P)H hydride donor and an FAD cofactor. The E. coli enzyme has a strong preference for the NADH donor, whereas the mammalian enzyme is specific to NADPH.
Problems From an MTHFR Gene Mutation
Individuals with low activity of the MTHFR enzyme may 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.
Nutrient deficiencies in Folate, B6 and B12 have been associated with elevated homocysteine.
Individuals with the MTHFR gene actually have a difficult time processing folic acid that is present in most cheap supplements and added to processed foods. Some professionals claim that this type of folic acid may even cause a build-up in the body leading to toxicity. Studies have been done that showed folic acid supplements increased cancer risk… one more reason to ditch processed foods and your multivitamin!
Types of MTHFR Mutation
There are many different possibilities when it comes to MTHFR gene mutations and science is still working to understand them all. I’ve included links to more in-depth resources below, but there are several common mutations that can occur.
The reason for all the 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 more scenarios that can occur.
The two most problematic mutations that can occur are C677T and A1298C, which denote the placement of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:
- Homozygous: the same gene passed on from both parents- can occur if both pass on the 677 mutation, or the 1298 mutation.
- Heterozygous: one parent passed on the 677 mutation or the 1298 mutation but the other parent passed on a normal gene.
- Compound Heterozygous: one parent passed on the 677 mutation and the other passed on the 1298 mutation.
- Other more advanced and rare mutations.
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 this can affect health, but there is strong evidence that because of the affect on methylation, it can increase cancer risk, cardiovascular disease risk, risk of fetal development problems and more. It can also possibly contribute to or exacerbate other problems like autoimmune disease, mental issues and more.
Can I Fix a MTHFR Gene Mutation?
You are born with a set of genes and you’ll die with the same set – nothing can change your genes. That sounds like bad news, but the good news is that we can get around a slow enzyme pathway – usually by supplementing the methylated form of B vitamins (so that it doesn’t matter if your genes can’t convert them) and also methyl donors. MTHFR mutation can make your life miserable, but if you learn to deal with it correctly it can also be overcome.
Biome IQ is the only company with a certified line of medical grade supplements designed for MTHFR mutations. Our products exceed the general professional guidelines, offer maximum purity, exceptional absorbability and have been clinically proven.
Though it isn’t possible to change a gene, there are things that can be done to minimize the potential for problems or to help avoid problems in children (before and during the mother’s pregnancy). Some things that are helpful are:
Focusing on gut health: Especially when the body has impaired ability to use certain nutrients, it is important to focus on gut health so that the body can absorb the nutrients from food as effectively as possible. Avoid antibacterial soaps, vegetable oils, processed grains and refined sugars and support the gut with fermented foods and homemade broth. This also helps avoid candida, which can make MTHFR related problems worse.
If you need more information on the gut, specifically “leaky gut” click here. We also have a LEAKY GUT FOOD SENSITIVITY TEST KIT, essential to understanding if your gut is healthy
Avoiding environmental toxins as much as possible: Those with an MTHFR gene defect have an impaired ability to eliminate toxins. I avoid plastics, chemicals in beauty supplies and cleaning products, and scented candles, which can all release harmful chemicals. We use houseplants and other methods of cleaning our indoor air, and filter our drinking and shower water.
Not taking anything with Folic Acid: folic acid is the synthetic form of folate that cannot be used by those with a MTHFR defect and which can be very toxic. Avoid any supplements with folic acid and only take L-MTHF forms, which are the methylated forms the body can use. We also recomment Biome IQ – PURE METHYLATION ,a super B-complex designed for individuals with methylation deficiencies.
Lots of Leafy Greens: dark leafy greens contain the methylated forms of folate that those with a gene defect need. As if we needed more reasons that it is important to consume green veggies…
Avoid Processed Foods: Again, as if anyone needed another reason to avoid processed foods… Many processed foods have synthetic folic acid added.
Avoiding things that can block or deplete folate levels: Certain medications, including hormonal contraceptives can interfere with folate levels, and medicines like antacids can interfere with B-12 absorption.
Avoiding Heavy Metals: Heavy metals in diet or environment are harder to remove from the body for those with a gene defect, so I’m careful to avoid these.
Since those with a MTHFR defect have an impaired ability to eliminate toxins, help support your body in this process, BiomeIQ – MTHFR DETOX is absolutely essential to support the natural detoxification pathway which can be reduced by MTHFR mutations