This article has been medically reviewed by Nisha Chellam, MD, and Jaclyn Tolentino, D.O. It contains additional reporting by Jennifer Chesak.
MTHFR is an acronym for a gene in the body, and it's a mouthful: methylenetetrahydrofolate reductase. Some people have an MTHFR gene mutation associated with various symptoms and health conditions—you may have just one MTHFR mutation or two.
The MTHFR gene is one of the main genes that codes for a major enzyme involved in how the body processes folate. About 40 percent of people carry at least one MTHFR gene variant that may lead to low levels of folate and other B vitamins and high levels of homocysteine (an amino acid).
Over time, the downstream effects of MTHFR mutations can put people at higher risk for many common health problems, such as preventable heart disease, colon cancer, stroke, Alzheimer’s disease and other forms of dementia, and more.
How do you know if you have one or more MTHFR variants and what can you do? Read on to learn about the most common symptoms, see what testing is available, and discover the best natural treatments to help you manage symptoms for the long term.
Note: While this article is about MTHFR gene mutations and their implications, looking at your genetic health as a whole is best. Parsley Health members have access to expanded panel testing so we can see how your genetics impact your overall health.
What exactly is an MTHFR mutation?
An MTHFR gene mutation may change the way you metabolize and convert nutrients from your diet into active vitamins, minerals, and proteins your body can use. This genetic mutation may also affect hormone and neurotransmitter levels, brain function, digestion, cholesterol levels, and more.
Your body is made up of trillions of cells, each containing your genes, which you inherit from your biological parents. You get one copy of each gene from the egg and one from the sperm to make a pair. The pairs divide and copy to create your estimated 20,000 genes.
Your genes are the set of instructions for making you who you are. Genes are segments of DNA, and each gene provides a particular set of instructions, usually coding for a specific protein or function.
MTHFR is a gene that provides the body with instructions for making an enzyme called 5-10-methylenetetrahydrofolate reductase, hence the acronym. When you eat foods that contain folic acid (vitamin B9), the MTHFR enzyme converts it into methyl-folate (folate’s active form).
Methyl-folate is critical to methylation. Methylation is a chemical process that transfers a methyl group (of four atoms) from one molecule to another. Think of methylation as flipping an "on" switch to help optimize different processes in the body, from hormone to heart functioning.
The MTHFR enzyme also helps with the process of converting homocysteine into methionine, a crucial protein building block. When you have an MTHFR deficiency, meaning you're deficient in the enzyme, you may have an increased level of homocysteine. When the body cannot break down homocysteine properly and convert it to methionine, they have a condtion called homocystinuria, a genetic disorder.
Each parent passes down one copy of the MTHFR gene to you at conception, so you could have one MTHFR mutation (heterozygous) or two (homozygous).
The MTHFR gene also has two variants (mutation forms).
- C677T
- A1298C
You can inherit no variants, one, both, or two copies of the same variant. The more variations you have, the more issues your body will have with methylating.