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The MTHFR Puzzle Explained

MTHFR is an acronym that stands for methyltetrahydrafolate reductase and it is an enzyme that is linked to many facets of your health and wellness; which includes mood, exercise recovery, memory, pain, energy, wound healing, tissue regeneration, and more. Our genes affect our biochemistry and therefore impact our health (physical and mental diseases); and knowing your genes gives you an upper hand. Knowledge of your genes’ behavior allows you to predict in which ways they may impact your health. A variation in a single gene enlightens you about your particular health susceptibilities. This does not mean that you have to fall prey to your genetic make-up. Your environment plays a role and impacts your genes, too.

What is your genetic code? Let’s start with what is DNA (deoxyribonucleic acid) and how it works. DNA is made up of nucleotide base pairs (guanine, cytosine, adenine, thymine) and these base pairs bond together to create the “double helix”. It is through different combinations, lengths and sequences of the base pairs that design your genes. Every individual gene consists of distinct sequences of the nucleotide base pairs and are the recipe for your body to know how to assemble proteins. There are hundreds of nucleotide pairs and you may have more than one mutation. These changes may lead to big or small changes, or zero change in the arrangement of the protein. When the alteration is frequently found among the population, it is referred to as a single nucleotide polymorphism (SNP). When less than 1% of the population has a variant, it is referred to as a mutation. Both mutations and SNPs are genetic alterations from the “wild type” (normal). Mutations and SNPs both generate a change in the shape in the protein and this creates a change in function. The way this new shape combines with neighboring molecules is recognized as spatial configuration. The spatial configuration of molecules is decided by those differences present in the molecules. The change in shape is how mutations and SNPs alter the job of the enzyme. If you remember from high school biology, you’ll recall that each of our parents gave us their genes randomly and then our body reads the DNA to create a protein. If we end up with a nucleotide that is altered on one gene and the other is normal, this is known as heterozygous. A heterozygous gene usually creates a milder protein shape change. When you receive two altered genes (one from each parent) you have what is known as a homozygous alteration. This leads to an alteration in more than proteins (MTHFR) that are manufactured. All enzymes are proteins that support biochemical reactions and these enzymes help modify and change molecules in our bodies.

The MTHFR enzyme transforms inactive folate (folic acid) into active folate, also known as 5-MTHF. A variance in your genes leads to a reduction in 5-MTHF levels. How your body uses methyl folate is vital and dimensional because it is a very bio-active element. Methylation is the central biochemical pathway linked to methyl folate. Methylation involves passing one molecule, known as a methyl group, along to another. A methyl group consists of a carbon with three hydrogens hooked to it. During the process requiring methyl folate, homocysteine is transformed into methionine and then to SAMe (S-adenosylmethionine). MTHFR assists in the creation of SAMe which is ultimately the desired creation of methylation. The severity of your MTHFR variation (SNPs) decides how slow your methylation process will be; as the presence of these SNPs influences the function of the enzyme.

Prevalent MTHFR Symptoms:

  • High blood pressure

  • Fatigue

  • Anxiety

  • Headaches and Migraines

  • Depression

  • Neuropathy

  • Other Nerve problems

Common Associated Health Conditions:

  • Allergies

  • Asthma

  • Addiction

  • Autism

  • Blood Clots

  • Cancer (multiple)

  • Chemical Sensitivity

  • Cardiovascular Disease

  • Down Syndrome

  • Eczema

  • Epilepsy

  • Fibromyalgia

  • Irritable Bowel Syndrome

  • Infertility (male and female)

  • Multiple Sclerosis

  • Parkinson’s

  • Spina Bifida

  • Schizophrenia

  • Type 1 Diabetes

  • Tongue Tie

Let’s talk SNPs…

The MTHFR gene is profoundly vulnerable to mutation via polymorphic areas in the gene; however, it appears there are two primary SNPs that have a meaningful consequence to the MTHFR enzyme. The two SNPs that are problematic are located at C677T and A1298C. The SNP, known as C677T, is the mutation that occurs most frequently. When you acquire two copies of this SNP, your MTHFR enzyme will be diminished by about 70%; which means, that the enzyme operates at a 70% less capability than in another who has normal variations. Consequently, this leads to decreased enzyme activity which results in diminished methyl folate for your body to utilize. Up to 50% of the population may be impacted by some form of a MTHFR SNP. Knowing and understanding which SNPs you have lets you anticipate how likely you are to have a problem with methylation and the ways in which they may reveal themselves.

Stay tuned for what it requires for the MTHFR enzyme to thrive.


Terranella, Robin. MTHFR Gene Therapy Demystified: Crack Your Genetic Code to Better Health. 2017.

Murray, Michael T., et al. “Vitamins.” The Encyclopedia of Healing Foods, Time Warner International, 2006.

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