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What the MTHFR is My DNA Mutation


Ruth, a.k.a. Elayne Kongaika, was raised in the orchard town of Orem, Utah. She married a Polynesian and has had amazing travel experiences.



I am a mutant! At age 64 I found out I have a mutation in my DNA called MTHFR. I heard about it on facebook from a friend. She listed the symptoms and they sounded too much like mine. So, having had a brain scan recently, I knew I did not have a stroke, and there were no tumors in my brain. I asked my doctor if I could have a blood test to check for MTHFR DNA mutation. When the results came, I was grateful someone had listened to me.

The Methylation Miracle

All my life I have felt a bit out-of-sync with the rest of the humans I have lived around. As a child, I was well known for my temper which usually resulted in my running to my bedroom, slamming the door and being alone for several hours. I eventually came out of my room, acting as if nothing had happened. I have dealt with depression for much of my life, at certain times severe.

My friend posted on facebook about a MTHFR Gene Mutation and the more I read, the more I related to the symptoms. It definitely piqued my curiosity, and I read all I could find about it. It seems like a fairly new discovery and not many doctors are aware of it. My doctor ran a blood test to check if I had the mutation. MTHFR stands for Methylenetetrahydrofolate Reductase.

According to MTHFR.net, the MTHFR gene mutation is a highly significant pubic health problem that is almost completely ignored. Millions suffer from addictions, fibromyalgia, miscarriages, schizophrenia, severe depression, cancer and autism and pulmonary embolisms, just to name a few conditions which are linked to the MTHFR gene mutation.

My mutation is heterozygous A1298C. There is also a C677T which seems to get more attention, but I found that symptoms associated with MTHFR mutations include: brain fog, headache, memory loss, hand tremors, chronic fatigue syndrome, fibromyalgia, irritable bowel syndrome, insomnia, muscle pain, delayed speech and hypertension. Signs that point to a mutation are decrease in seratonin, dopamine, epinephrine and norepinephrine, ulcers, pre-eclampsia and elevated blood pressure amongst others.

My own symptoms included insomnia, depression, speech delay, inability to deal with stress and muscle pain. Last year I had shingles. I am glad that my doctor agreed to do the blood test. Although I have been taking medication for some time for each of these conditions, they have not been resolved. Two of my sisters also have similar symptoms and suffer, so I suggested that they have the test too.

Those with A1298C may have methylation issues which lead to increased toxicity. I was prescribed a medical food called Deplin. It is quite new, so it is very expensive, but I feel it is worth it.

With MTHFR, it is difficult for me to process amino acid homocysteine to amino acid, methionine.

I would love to hear from you if you have had experience with MTHFR, especially A1298C heterozygous. Share with us so we can help others with this mutation. Now I am on a mission to find out others in my family who may have the same mutation.

Fellow hubber - same subject

  • MTHFR Mutations
    Finding out I had a MTHFR mutation saved the life of my son. Knowing sooner would have saved my preemie son and daughter. Can you afford to not know about this common gene mutation?

© 2015 Elayne


Mary Craig from New York on March 25, 2015:

I'm glad you finally got a valid diagnosis. It is absolutely amazing the things science is now finding out about our bodies. I hope your sisters to well with their tests.

Voted up, useful, and interesting.

RTalloni on March 25, 2015:

Very interesting to learn about MTHFR, and it will be even more interesting to follow this discussion as you hear from fellow patients. This caught my eye because my friend finally found an answer to a physical issue she has dealt with all her life via this same sort of testing and she is beginning to feel much better with treatment.

Peggy Woods from Houston, Texas on March 25, 2015:

I am sorry that it took so long a time to diagnose your medical issue but it is good that they are discovering a reason to account for the symptoms. Good luck to you with regard to your treatment and thanks for bringing more attention to this. UUI votes and I will pin to my health board and also share.

diogenes from UK and Mexico on March 25, 2015:

Interesting. Showcases yet again how little we really understand about anything!


kjforce from Florida on March 24, 2015:

I have heard of this newly discovered disorder, which however, like many in the Medical field, have not had much experience in the treatment. Just as Fibromyalgia was a mystery for years, and just recently recognized.

I do know patients should avoid eating processed foods, due to added synthetic folic acid.

Eating whole foods with no added chemicals or preservatives is recommended.

Get a daily intake of leafy greens, spinach, kale, swiss chard or arugula, which are loaded with natural levels of folate that the body can more easily process.

Eat hormone-free, grass-fed beef, organic pastured butter , and eggs from free-range, non-GMO fed chickens.

Remove any mercury fillings with a trained dentist. Avoid aluminum exposure in antiperspirants or cookware. Avoiding heavy metal or other toxic exposure is important.

Make time for gentle detox regimens several times per week. These could include infrared sauna, epsom salt baths, dry skin brushing, and regular exercise or sweating the . I wish you well on your road to help alleviate the pain and discomfort of your disorder.

Thanks for sharing your story, it will benefit many .