surviving MTHFR mutations

Surviving MTHFR is an ongoing, lifelong process.

I have the genetic mutation MTHFR, with gene mutations C677T and A1298C heterozygous.  Not familiar with MTHFR?

The Human Genome Project is a genetic study that discovered the gene methylenetetrahydrofolate reductase (MTHFR).  The MTHFR gene produces the MTHFR enzyme, which works with the folate vitamins folic acid and B9 to break them down.  5-methyltetrahydrofolate helps convert the amino acid homocysteine into methionine, which is used to make proteins, utilize antioxidants, and assist the liver to process fats. Methionine helps with depression and inflammation, and is converted into SAM-e, which is anti-inflammatory, supports the immune system, and helps produce and then breakdown brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of cells.   Whew!

What happens when the MTHFR gene is defective?  From an article on

  • The gene produces a defective MTHFR enzyme which functions less than optimally, such as performing at only a percentage of its capacity. It can mean you won’t break down toxins or heavy metals well.
  • The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor), which can cause high homocysteine, which can increase your risk of coronary heart disease, related heart and blood pressure 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, increased inflammation, increased free radical damage, and produce less SAM-e.
  • Less SAM-e can increase depression.
  • MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS, miscarriages, migraines, chemical sensitivities and many other conditions.
  • You may have high folate or high B12.  Your body will have problems converting inactive forms of folate and B12 to the active forms. The inactive folate or B12 builds 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.

My medicine closet. Lots of different supplements!

The diagnosis of MTHFR is helping me to understand myself.   From years of chronic fatigue, disordered eating, a series of failed relationships, gluten intolerance, depression, and anxiety – MTHFR AFFECTS THE BRAIN.

My writing here is, in part, to chronicle what I am doing in day to day routine.  Partly it helps me identify trends in medications and behaviors.  I hope it helps me to see progress towards positive physical and mental health so that I can continue to unravel the puzzle of good health and well-being.

My goal is not just to survive MTHFR, but to overcome it.

Some good resources if you are new to MTHFR and the cornucopia of delightful issues it brings to your life:

Stop the Thyroid Madness – articles about MTHFR, adrenal fatigue, and hypothyroid

Dr Ben Lynch has a comprehensive website and community about all aspects of MTHFR and treatment protocols here.

Dr Lawrence Wilson has extensive articles on methylation and detoxification here. has recipes and motivation to reduce sugar consumption.






Leave a Reply

Your email address will not be published. Required fields are marked *


CommentLuv badge