by ROBIN BERZIN, MD

Doctor

April 19, 2018

If you’re wondering “what is MTHFR?” you’re not alone. Here’s a primer on what you need to know about this common genetic mutation.
Your body is made up of trillions of cells, each containing your genes—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 a particular function.

Humans have an estimated 20,000 genes, and one of those is the MTHFR gene, a gene that helps your body process folate. Unfortunately, 30-60 percent of all people carry an MTHFR gene variant that may lead to low levels of folate and B vitamins, and high levels of homocysteine in the blood. Over time, the downstream effects of mutations in the MTHFR gene can put people at higher risk for many common health problems, such as preventable heart disease, colon cancer, stroke, Alzheimer’s disease, and more.

So how do you know if you have a MTHFR variant and what can you do about it? First, head over to our free quiz —a quick full-body assessment that helps you identify any symptoms and find out how you really feel. Then read on for an outline of the most common symptoms of the MTHFR gene, see what testing is available, and discover the best natural treatments to help you manage symptoms for the long term .

What exactly is an MTHFR mutation?

MTHFR is a gene that provides the body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid, MTHFR converts it into methyl-folate (folate’s active form).

Methyl-folate is critical to methylation, which helps to optimize a huge number of processes in your body including the production of DNA, metabolism of hormones, and proper detoxification.

There can be one abnormal variant (heterozygous) or two (homozygous), which are passed down from parent to child. The more variations you have, the more issues your body will have with methylating.

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.

What is methylation and why is it important?

Our bodies are incredible, complex machines. Methylation is the process that allows some internal switches (i.e. bodily receptors) to turn on and off to function efficiently. SAMe—also known as S-adenosyl-L-methionine—is known as the universal methyl molecule that donates a methyl (CH3) group to enable our cardiovascular, detoxification, and neurological systems to perform. If methyl-folate is not present, this methylation process simply halts, resulting in a myriad of symptoms.

Symptoms of an MTHFR gene mutation

MTHFR mutations affect everyone differently, and symptoms can vary from long-term health issues to hardly noticeable changes in overall health. Research has shown an association between MTHFR mutations and several health problems including:

  • ADHD (Attention Deficit Hyperactivity Disorder)
  • Autism
  • Autoimmune disease and thyroid issues
  • Cardiovascular disease
  • Chronic fatigue
  • Colon Cancer
  • Digestive issues , including IBS (Irritable Bowel Syndrome)
  • Hormonal issues, including PCOS (Polycystic Ovary Syndrome)
  • Migraines
  • Schizophrenia

Research has even found an association with an MTHFR mutation and depression, anxiety, and other mental health disorders . MTHFR produces an essential enzyme that converts folate into a form that plays a role in mood-regulating neurotransmitter production.