What Are the MTHFR Variants?
If there’s one supplement you’ve seen blasted all over your social media feeds, it’s methylfolate. As much as most people hear about it, there’s a lot of confusion over what it is exactly and why it’s important to the human body.
One of the main reasons methylfolate has stirred up so much interest in the medical world is because over half of the population is believed to have a mutation in one of their genes responsible for reducing the amount of methylfolate available in the body. This can lead to a deficiency, which has been linked to various different health concerns.
In fact, there are two variants of the mutation that are heavily studied and researched today -- the 677 variant and the 1298 variant. Before we dive into what those two variants mean, it’s important to understand what the MTHFR gene is and the role it plays in methylfolate synthesis.
Understanding the MTHFR Gene
Methylenetetrahydrofolate reductase, also known as MTHFR, is an enzyme produced by the MTHFR gene. It plays a role in synthesizing folate into the active form our body utilizes -- methylfolate. Without this conversion, the folate we consume on a daily basis would be fairly useless to the body.
Folate, which many will know as Vitamin B9, comes from a variety of food sources including leafy greens, legumes, eggs, asparagus, citrus fruits, brussels sprouts, broccoli, nuts, and seeds. It can also be found in some fortified foods, though this is synthetic folic acid, something that functions very differently within the body than dietary folate. NOTE: If you have an MTHFR variant, you want to avoid synthetic folic acid.
Once the body converts folate into methylfolate with the help of the MTHFR gene, From there, it will aid the body in producing healthy DNA, energy production, and detoxification. Since methylfolate can cross the blood-brain barrier, unlike folate, it can also help produce and regulate neurotransmitters in the body.
While methylfolate can do plenty of good for the body, the MTHFR gene can get in the way of your body’s ability to convert folate to methylfolate properly. Researchers have found many different SNP variations (single nucleotide polymorphisms), or mutations, in the MTHFR gene that could be responsible for this struggle, but there are two that have raised the most eyebrows thus far and have been researched the most -- the 677 variant and the 1298 variant.
677 & 1298 Variants
The 677 variant is by far the most studied and researched SNP mutation of the MTHFR gene. Some studies have concluded that this variant is thermolabile, meaning it can be damaged or destroyed when exposed to heat.
The 1298 variant is the other well-known mutation of the MTHFR gene and has seen its fair share of studies and research (single mutation = A1298C or double mutation = 1298CC). It tends to be known more for its affect on mental health and aluminum build up in the body. Though both mutations can be known for this as well, especially, individuals with a copy of both the A1298C and C677T variants, they may have a much higher chance of seeing a negative effect on the body. This combination of a single mutation on both SNPs is referred to as compound heterozygous.
There will even be some rare few who will have a triple mutation, meaning either 677TT and A1298C or 1298CC and C677T - as you can imagine, these folks will have significant health symptoms related to methylation challenges.
Luckily, it’s extremely easy to get tested for an MTHFR mutation and your doctor will be able to tell you which of the two most common variant(s) you have. It’s becoming more and more popular to get tested since so many people are believed to have a variant. Although it won’t always mean you’ll experience symptoms, it will normally mean that some kind of action should be taken -- even if it’s just increasing your L-Methylfolate intake.
Symptoms You Should Be Looking Out For
Believe it or not, every human being will receive one copy of the MTHFR gene from each of their parents. A mutation in either of these genes, as described above, can have a negative impact on the body’s ability to function properly.
While there are no sure-tell signs and symptoms of an MTHFR mutation, it has been linked to a variety of health concerns including:
- Low serotonin & neurotransmitter imbalance (i.e. Depression, stress, and anxiety)
- Mental disorders (i.e. Bipolar, Schizophrenia, etc.)
- Brain health (i.e. ADD/ADHD, Dementia, Alzheimer’s, Cerebral Folate Deficiency)
- Excessive fatigue (i.e. Chronic Fatigue)
- Headaches and migraines
- Cardiovascular issues (i.e. heart attacks, strokes, aneurysms, deep vein thrombosis, etc.)
- Body and muscle pain (i.e. Fibromyalgia)
- Issues with the digestive system (i.e. IBS)
- Pregnancy health (i.e. fertility, miscarriages, neural tube defects)
- Multi-proned disorders and diseases (i.e. Autism, Lyme, chemical sensitivities, chronic illness, etc.)
In addition to those, an MTHFR gene mutation has also been linked to an increase of homocysteine in the blood. This can lead to blood clots, seizures, numbness in the body, and developmental disruptions.