MTHFR Gene Mutation

The MTHFR gene mutation was discovered in 2003 as a result of the human genome project. MTHRF gene mutations were found to be defective in a large percentage of the population that causes a myriad of health concerns. This is the MTHFR gene mutation and it can become active if you received one copy from a parent or two copies from both of your parents.

MTHRF Gene Mutation and related symptoms and diseases

  • Fibromyalgia
  • Mental illness
  • High blood pressure
  • Pre-eclampsia
  • Tremors
  • Decreased dopamine and serotonin levels
  • Chronic Fatigue Syndrome
  • Autism
  • Depression
  • Insomnia
  • Irritable Bowel Syndrome
  • Inflammatory Bowel Syndrome
  • Erectile dysfunction
  • Migraines
  • Raynaud’s
  • Cancer
  • Alzheimer’s
  • Parkinson’s
  • Recurrent Miscarriages
  • Stroke
  • Schizophrenia
  • Bipolar Disorder

MTHFR Gene Mutation Prevalence

If you are one of the estimated 20%-40% of people that have a single gene mutation your ability to detoxify, produce enzymes, heal from inflammation, generate neurotransmitters, and support your immune system are performing with 40% reduced function. If you are one of the 4%-14% of people with two gene mutations you are performing these vital functions at 70% reduced function.

MTHFR Gene Mutation Mechanisms

The key mechanism disrupted with MTHFR gene mutation is the body’s ability to make an enzyme called methylenetetrahdrofolate reductase. This enzyme is critical to absorb the vitamin B-9 folate (often supplemented as folic acid), process amino acids into proteins, and convert homocysteine to the amino acid methionine.

Low folate levels can cause the following symptoms due to reduced RNA and DNA synthesis:

If you have the MTHFR gene mutation then folic acid supplements can actually make you worse. Folic acid supplement have a negative reaction in the body when they cannot be converted. Certain types of cancers, including colon and rectal cancer, are associated with folate deficiency. People who feel worse when they take standard multi-vitamin supplements may be more likely to have this gene mutation.

Elevated homocysteine levels may damage blood vessels causing a hardening of the arteries and blood clots. Increased homocysteine levels show increased risk for heart attacks and strokes. Many sources recommend increasing folic acid supplementation, however, if you can’t convert folic acid this will make you feel worse.

 Information on our website is not intended to diagnose, treat, or be a substitute for regular medical care. We encourage you to discuss all therapies with your primary care doctor before making any changes in your health regimen.


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