MTHFR: The mother of all genes

The study of genetics is becoming an increasingly popular tool in addressing health problems. At the top of the list of important and influential genes is the MTHFR gene.

MTHFR is short for methyl-tetrahydrofolate reductase, an enzyme that is responsible for the process of methylation in every cell in your body. The methylation process is responsible for cellular repair, detoxification and neurotransmitter production, and immune system function.

There are two genes commonly used to identify MTHFR. The first is C677T. If you are heterozygous (one affected copy and one normal copy), your methylation decreases by 40%. If you are homozygous (two affected copies) your methylation decreases by 70-90%. The second is A1298C. One copy of this gene slightly decreases methylation; two copies decreases it by about 20%. The obvious worst case scenario is two copies of both the C677T and the A1298C, which can lead to methylation rates below 10%.

You can find out this information through simple gene testing such as 23&Me or Ancestry, that is run through a program like PureGenomics or Genetic Lifehacks. (I offer both.)

Health conditions associated with with the MTHFR gene include:

  • Autism

  • Migraines

  • Fertility issues

  • Fibromyalgia

  • Chronic Fatigue Syndrome

  • Parkinson’s Disease

  • Stroke

  • Heart Disease

  • Irritable Bowel Syndrome

  • Alzheimer’s Disease

  • Blood clots

  • Seizures

  • Multiple Sclerosis

Treatments may include the following:

  • Adding foods rich in Methyl Folate including spinach, cauliflower, romaine lettuce, cabbage, kale and broccoli.

  • Supplementing with Methyl Folate, or ensuring that your B Complex vitamin is methylated (that it includes Methyl Folate). Those with the MTHFR genes have an impaired ability to convert folic acid to folate, so taking a supplement with folate is key. Typical suggested dosages run from 3-15 mg per day. (Taking too much can worsen symptoms, so it is advised to start low and go slow.)

  • Adding detoxification supports such as Glutathione (liposomal for best absorption) and/or N-Acetyl Cysteine (NAC), which promotes the natural production of Glutathione. 

The mental health aspect of the MTHFR gene is starting to be explored, as it has been found to play a huge role in conditions including addictions, depression and anxiety, schizophrenia and bipolar disorder. Low folate levels are associated with a higher risk of depression, decreased response to antidepressants and a higher relapse rate for addicts. Patients with homozygous MTHFR genes were found to be 13.9 times more likely to have addictions to drugs. Supplementing with Methyl Folate has been found to enhance treatments for these conditions, but in these cases, it is advised to start with a lower amount, such as 1-3 mg per day and build up to 15 mg per day as tolerated. Too much methyl folate at once may make patients with mental health issues initially worse.

Information about the MTHFR gene is finally becoming more prominent and accessible, likely thanks to the internet. But still, the vast majority of people have never heard of it. For all of its far-reaching health consequences, it is still rarely mentioned or investigated by traditional doctors. While it is not considered the sole “cause” of any particular condition it is often a large piece of the puzzle, one which can easily be addressed and resolved.

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