MTHFR gene mutation

April 6, 2021

Did you know that there are over 20,000 genes in the human genome? These genes give specific instructions to make us who we are. But genes aren't always perfect and often have mutations that cause interferences in normal processes. Approximately 4 out of every 10 Americans carry a genetic mutation called MTHFR that can interfere with the body's ability to absorb certain vitamins and perform essential detoxification processes. This can predispose us to certain health conditions to include cardiovascular disease, depression, anxiety, ADHD, colon cancer, migraines, chronic fatigue, autoimmune diseases, and recurrent miscarriages. MTHFR is the acronym for the gene that provides instructions for an enzyme called methylenetetrahydrofolate reductase, which acts to convert folic acid (B9) into folates active form, methyl-folate (5MTHF). Without adequate methylation, your body can lack the ability to detoxify, produce, and protect precious DNA. The good news? There are steps you can take to support your body by providing it with what it lacks. Ask your practitioner about MTHFR at your next appointment. Krull KR, Brouwers P, Jain N, et al. Folate pathway genetic polymorphisms are related to attention disorders in childhood leukemia survivors. J Pediatr. 2008;152(1):101‐105. doi:10.1016/j.jpeds.2007.05.047 Moll, S. & Varga, E. A. Homocysteine and MTHFR Mutation. https://doi.org/10.1161/CIRCULATIONAHA.114.013311Circulation. 2015;132:e6–e9 Simon Gilbody, Sarah Lewis, Tracy Lightfoot, Methylenetetrahydrofolate Reductase (MTHFR) Genetic Polymorphisms and Psychiatric Disorders: A HuGE Review, American Journal of Epidemiology, Volume 165, Issue 1, 1 January 2007, Pages 1–13, https://doi.org/10.1093/aje/kwj347 Sibani S, Christensen B, O'Ferrall E, et al. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15(3):280‐287. doi:10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I

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