What is MTHFR? This gene has become a buzzword in the world of functional medicine and integrated health centers. We will discuss here what it is, how it can affect you, and most importantly what it may mean or NOT mean for your health expression.

Have you been searching for ways to improve your health or brain condition and come across suggestions to test MTHFR? What is MTHFR and what does it have to do with your health? If you are one of the 60 percent of people with a genetic variant in the MTHFR gene, it could affect your ability to successfully manage your autoimmunity, brain-based symptoms, or overall well being because these all can be impacted by this genetic defect or SNP. SNP stands for single nucleotide polymorphism and there are thousands of different ones that can impact your health in various ways.

MTHFR is the acronym for methylenetetrahydrofolate reductase, an enzyme involved in processing folate, or vitamin B9, into a usable form the body can assimilate. It’s also necessary to metabolize folic acid, a synthetic form of folate used in supplements. Yes, if your supplement says folic acid, that is a man made form of vitamin B9 as folic acid is not found anywhere in nature.

Thanks to the popularity of gene testing, people can now learn whether they have a mutation in the MTHFR gene. If so, it means their methylation pathways may be impacted and contributing to health challenges.

Methylation pathways govern detoxification and many important metabolic processes in the body, which makes a MTHFR variant something worth paying attention to. If you are struggling to manage your autoimmune disease or brain-based symptoms such as brain fog, fatigue, or depression, you may find the MTHFR test valuable.

Methylation is a process of adding a methyl group to a molecule. Methylation’s roles jobs include the following:

·       Turning genes on and off

·       Detoxifying chemicals and toxins from the body

·       Building brain neurotransmitters

·       Metabolizing hormones to maintain hormonal balance

·       Building immune cells

·       Synthesizing DNA and RNA

·       Creating cellular energy

·       Producing a protective coating that sheathes the nerves

·       Metabolizing histamine

·       Supporting eye health

·       Burning fat

·       Supporting liver health

Proper methylation means one can efficiently make proteins, use antioxidants, metabolize hormones, enjoy more balanced brain chemistry, detoxify toxins and heavy metals, and dampen inflammation. All of these factors are vital to managing autoimmunity and brain-based symptoms. 

However, if you’re one of the 60 percent of people with a MTHFR genetic variant, you may not be able to properly break down folate in foods or folic acid in supplements.

An inability to properly process folate can raise levels of homocysteine. Homocysteine is an amino acid in the bloodstream that can be dangerous when levels are too high. High homocysteine is linked to an elevated risk of heart disease and Alzheimer’s. Standard laboratory ranges are from 0-15. However, the literature shows that levels below 15 are still dangerous in causing damage to nerve and cardiovascular structures.

Poor methylation also impacts another vital process — the production of glutathione, the body’s main antioxidant. When we become deficient in glutathione, we lose our natural defenses and are at higher risk of developing autoimmune diseases, food sensitivities, and chemical sensitivities.                                                           

An MTHFR variant can also impair the body’s ability to synthesize important brain neurotransmitters, so that brain-based disorders may arise. An MTHFR variant has been linked to depression, anxiety, brain fog, ADHD, bipolar disorder, and even schizophrenia.

Because methylation is involved in so many important processes in the body, an MTHFR gene variant has been associated with many health conditions, including:

·       Heart attack

·       Stroke

·       Venous thrombosis

·       Cancer

·       Birth defects

·       Inflammatory bowel disease

·       Mental and mood disorders

·       Autoimmune disorders such as Hashimoto’s hypothyroidism

If you are trying to manage a condition like Hashimoto's hypothyroidism or brain-based symptoms, it’s imperative that you be able to dampen inflammation and raise glutathione levels. An MTHFR variant can work against you.

Fortunately, it can be easy to address.

First of all, you can test for MTHFR gene mutations through genetic testing companies such as Spectracell or 23andme.com, and get an interpretation at geneticgenie.org. LabCorp and Quest are also able to test for this gene through the blood.

More than 50 MTHFR genetic mutations exist, but the two considered the most problematic are C677T and A1298C (often written as just 677 and 1298). There are various combinations of how these may play out as we are given one copy of each gene by each of our parents. These combinations are classified as heterozygous and homozygous.

• Heterozygous – having one copy of a gene variant and one normal copy

• Homozygous – having two copies of a genetic variation

According to Dr. Ben Lynch, methylation can be hindered with these genetic variant combinations:

• Homozygous for C677T have an estimated 70% loss of function

• Heterozygous for C677T have an estimated 40% loss of function

• Those with a A1298C on top of a C677T variant could experience even greater loss of function.

Also, keep in mind gene variants don’t always become activated. If you show those genes on a test it doesn’t necessarily mean they have been expressed and are causing symptoms. Let us say that again. Just because you have the gene defect does not mean that they are actively expressed and impacting your health. WAY too many practitioners assume that just because you have the gene you are functionally not methylating well and they begin to treat this defect which is a big no no.

To address a MTHFR enzyme variant, support your methylation pathways with methylfolate and methylcobalamin (methyl B12). Avoid supplements with folic acid, boost your glutathione levels with high quality oral liposomal glutathione, and minimize your exposure to toxins. These are also beneficial strategies to aid in the management of autoimmune diseases and brain-based symptoms. We will be expanding on this article in some future posts!