This Gene Mutation Causes Autism, Miscarriages and Heart Disease. Get These 2 Nutrients to Stop It

Methylation is an essential biochemical process in the body which affects your utilization of vitamin B12 and folate, neurotransmitter synthesis (dopamine, serotonin and norepinephrine), regulation of gene expression, processing of toxic heavy metals, hormone activity, immune system regulation, and regulation of homocysteine. I know this sounds like lots of biochemistry, but I will try to simplify the process.

Many of us carry mutations or defects in methylation genes, and there is one in particular that has been extensively researched called “MTHFR”, or methylenetetrahydrofolate reductase. This particular gene mutation is implicated as one causative factor in a very long list of conditions, including:

  • autism
  • recurrent miscarriage
  • addiction
  • mental illness (depression, anxiety, bipolar, schizophrenia)
  • Alzheimer’s
  • fibromyalgia
  • spina bifida
  • Down’s syndrome
  • chemical sensitivity
  • migraine with aura
  • atheroscllerosis (cardiovascular disease), especially at younger ages
  • and many more…

This gene mutation is carried through your family tree, so if you see many of these issues strongly in your family history, you may also carry this issue.

On the positive note, the MTHFR defect can be corrected by supporting the process with the correct forms of nutrients to essentially ‘bypass‘ the faulty enzyme. Nutrients typically required are the methylated versions of folate, called 5-MTHF and vitamin B12 in the form of methylcobalamin. Methylation however, is a more complicated process than just one enzyme, so if we are looking to support your genetics, I highly recommend testing more than the MTHFR gene in order to look at surrounding enzymes and pathways in the methylation cycle.

The reason that the methylation pathway in particular is so important, is that it is one of the keys in gene expression. Your genes themselves never change, but this ties back to my previous article on epigenetics, which essentially means that our genetic expression is malleable, depending on nutritional intake, toxin exposure and other stresses on the body.

Methylation is a process of effectively turning off or turning genes by adding methyl groups to the DNA strands. In very simple terms, wherever there is a methyl group, that gene will be silent, and when the methyl group is removed, the gene will be expressed. The implications of this are enormous, in terms of any susceptibility to a disease or health condition that we carry. Having an optimally function methylation cycle is key to reducing our susceptibility to cardiovascular disease, cancer, neurological diseases and many other conditions.

If you are interested in testing to see if you carry methylation issues in your DNA, the most extensive test is the full genetic profile through. Once your results are in, there is a way to access your raw data, in order to view the genetic mutations that you carry. My one caution with this test is to think about the information you may find, and the implications of having this information about your health. If you plan to use this data in a proactive, productive way, it can be very empowering.

If you think you would worry endlessly about the what-if’s of what you genetically carry, then I would advise against this test. We can also very simply test MTHFR at the clinic, with a cheek swab sample, and results take only 10 days to arrive. This test looks only at MTHFR, as well as factor V Leiden and prothrombin mutations (two inherited blood clotting disorders). This simple test is ideal for a fertility work-up.

Methylation, epigenetics and optimizing your nutrition, lifestyle and supplements accordingly is an exciting field of medicine that has incredible implications in the treatment of disease and also in prevention. I would be happy to answer questions during your next appointment.


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