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What is MTHFR and how can it affect your health?

What is MTHFR and how can it affect your health? Well excuse me, that is quite a naughty mouthful, or is it?! Many get the wrong impression from those 5 little letters, when in fact MTHFR, is quite a serious subject. MTHFR is the official name of a gene within your body. This gene is responsible for giving instructions to your body on how to make an enzyme called, methylenetetrahydrofolate reductase. A project in 2003, called the Human Genome Project, exposed MTHFR genetic defects, which do not allow your body processes to work efficiently.


Methylenetetrahydrofolate reductase helps your body process amino acids, the building blocks of protein. Let me try to simplify the process so we can understand it. The MTHFR gene, produces the MTFR enzyme. Through a process called methylation, that enzyme then combines with folate (vitamin B9) to convert a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. 5-Methyltetrahydrofolate then converts the amino acid homocysteine into another amino acid called methionine. Methionine is used by our liver to break down or process fats, and use antioxidants. Methionine is also used by the body to make SAMe, which is an anti-inflammatory, and helps the brain regulate serotonin and dopamine, thus regulating depression.  Without proper methylation functions, your body is at risk for a build up of toxins, inflammation, and other health problems.


According to, having a defective or mutated MTHFR gene can lead to some serious health complications:


  • It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, or high copper, or high lead, or high mercury….etc. High copper can also cause low ferritin, even though your iron levels look great!
  • The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular disease or venous thrombosis), and related heart and BP conditions, as well as increasing your risk for dementia.
  • Homocysteine is poorly converted to glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup.
  • Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia (see Wiki), increased inflammation, increased free radical damage… and produce less SAM-e
  • Less SAM-e can increase depression
  • And more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions.
  • You can find yourself with high folate or high B12 i.e. your body will have problems converting inactive forms of folate and B12 to the active forms. So the inactive folate or B12 will simply build up in your serum, also inhibiting the active forms. Most serum folate tests are actually measuring folic acid, which needed to be converted to methylfolate to be used metabolically.
  • The journal Molecular Psychiatry states that “Schizophrenia-like syndromes, bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene”.  (2006;11, 352–360)


Another known authority on MTHFR defects, is Dr Ben Lynch. He has a site dedicated to answering questions and exploring the treatments of such MTHFR defects. If you visit his website you can access thousands of article on the subject and find doctors who have experience with MTHFR defects. Dr. Lynch feels that “repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency”, and that especially includes treating candida because of the toxins it releases, inhibiting proper methylation. For more information visit his website and the above Stop The Thyroid Madness site as well.


Posted in Health & Wellness | March 16 th , 2015 | 0 Comments

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