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Understanding the MTHFR Gene: Essential Information


By Dr. Andrew Meyer


What is the MTHFR function?


With new research emerging, more evidence is pointing at the importance of a gene called Methylenetetrahydrofolate reductase (MTHFR), an enzyme that is responsible of the breakdown of the amino acid homocysteine.


To help clear things up, we often hear about folate and/or folic acid. Folate is the naturally occurring form while folic acid is the synthetic or man-made version of Vitamin B9. Folic acid (and folate) needs to be converted to the active form called 5-methlyfolate (5-MTHF) to breakdown homocysteine.


How common is a MTHFR mutation?


It's estimated that approximately 40% of the general population has a mutation, or a decreased function in their MTHFR gene.


Where is Folic acid found?


Folate is commonly found in naturally occurring foods such as leafy green vegetables, fruits, and animal liver, but people may have a hard time reaching their recommended daily intake because naturally occurring folate can be destroyed by heat, light and cooking processes. Many foods have also been fortified with folic acid such as cereal based products, enriched breads, pasta and fruit juice.


Folic acid is commonly found in supplements such as multivitamins or other man-made products.


Common Symptoms associated with MTHFR mutations


Symptoms of MTHFR mutations can vary widely with each individual and may not be noticed unless they severe enough or they undergo genetic testing. Common symptoms can include:

  • Mood Swings, depression and anxiety

  • Difficulty concentrating

  • Digestive problems such as constipation or IBS (Irritable Bowel Syndrome)

  • Fatigue and low energy

  • Loss of appetite or unintentional weight loss


What conditions may be linked to MTHFR mutations?


Many common conditions have been associated with MTHFR mutations. While further research is needed in many areas to further understand MTHFR mutations and its link to certain conditions, we shouldn't overlook possible connections. Some of the conditions associated with MTHFR mutations include:

  • Cardiovascular disease (increased risk of stroke, high blood pressure etc)

  • ADHD

  • Blood clots

  • Neural tube defects

  • Infertility

  • Dementia

  • Depression


What can be done if we have a MTHFR mutation?


A majority of supplements and foods contain folate or folic acid, which is not as useful in those with MTHFR mutations. There are supplements that contain the form of folic acid that is active within our bodies called L-Methylfolate (L-5-Methylfolate).



You can purchase L-methylfolate here and receive a 10% discount.


To book a DNA consult click the link below




Sources:

  1. Yektaş, Ç., Alpay, M., & Tufan, A. E. (2019). <p>Comparison of serum B12, folate and homocysteine concentrations in children with autism spectrum disorder or attention deficit hyperactivity disorder and healthy controls</p> Neuropsychiatric Disease and Treatment, Volume 15, 2213–2219. https://doi.org/10.2147/ndt.s212361

  2. Shomon, M. (2023, April 7). How are MTHFR gene mutations and disease risk linked? Verywell Health. https://www.verywellhealth.com/mthfr-gene-mutations-disease-risk-3232709

  3. Graydon, J. S., Claudio, K., Baker, S., Kocherla, M., Ferreira, M., Roche-Lima, A., Rodríguez-Maldonado, J., Duconge, J., & Ruaño, G. (2019). Ethnogeographic prevalence and implications of the 677C>T and 1298A>C MTHFR polymorphisms in US primary care populations. Biomarkers in Medicine, 13(8), 649–661. https://doi.org/10.2217/bmm-2018-0392

  4. Eske, J. (2023, November 24). What is an MTHFR mutation? https://www.medicalnewstoday.com/articles/326181

  5. LAc, R. M. (2023, March 28). Folic Acid – Why You Should Avoid it With a MTHFR Mutation. MTHFR Doctors. https://www.mthfrdoctors.com/avoid-folic-acid-mthfr-mutation/

  6. Malaty, L. (2023, October 12). MTHFR gene mutations – everything you need to know. AustinMD Aesthetics & Wellness. https://austinmdclinic.com/mthfr-mutations-a-deep-dive/












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