How to Unlock MTHFR and the Methylation Cycle
The MTHFR Gene SNP (or snip) has received celebrity status. If any one person is to know a single gene mutation, it is the MTHFR gene. Instead of knowing the life-altering genes such as cystic fibrosis, neurofibromatosis, and sickle cell genes, most people know about MTHFR. It has become wildly popular among patients, doctors, and researchers.
The MTHFR gene is the tip of the metaphorical iceberg. Since understanding the role of MTHFR, scientists have unlocked the methylation pathway, and they have given clinicians some new tools in combating inflammation, mental health, bowel dysfunction, detoxification, and much more. There is more to the methylation cycle than just the MTHFR gene. Too much focus on one gene takes away from the complexity of a human. Rarely is a human’s problem the source of 1 gene mutation like sickle cell, cystic fibrosis, and neurofibromatosis. It is unlikely that MTHFR is your sole problem, especially since 70% of the population has at least 1 copy of “the problem.” Let’s spend some time talking about the rest of the methylation cycle and why it is important to unlock it.
Knowledge revolving around the MTHFR mutation is changing and growing rapidly. In May 2015, I attended the Annual Conference of the Institute of Functional Medicine where I heard from leading methylation researchers and experts. They discussed various implications, treatments, and other factors that influence your methylation abilities. The MTHFR mutation has stirred up a national “craze” about methylation.
Most practitioners are throwing Methylfolate (L-Methylfolate, MTHF, 5-MTHF, L‑methyltetrahydrofolate, Deplin) blindly at anyone with an MTHFR mutation. Many aren’t even tracking homocysteine levels. Now we know that it is not quite so simple.
The homocysteine level is an excellent indicator to track when working on someone’s methylation pathways, but it is not as straightforward as “just add more methylfolate.” In fact, some patients have an abnormally low homocysteine level, which is equally dangerous. This can be caused by a mutation in the CBS enzyme. Patients with this mutation inappropriately allow homocysteine to exit from the methylation cycle.
Note: If you have a CBS mutation and an MTHFR mutation, you may have a “normal” homocysteine level, but the false lowering of the CBS mutation hides the elevation.
The whole reason for homocysteine is to generate Methionine and Glutathione, which are your detoxification products. Studies show that elevated homocysteine levels raise your risk for heart disease because it causes decreased production of your natural antioxidants.
Since there are multiple mutations that play supportive roles in your methylation process, it is important to evaluate all of them. We need to take some of the light off of MTHFR and onto the entire methylation cycle. If you look at the methylation diagram, you can see multiple areas for mutations that can deplete Methionine production: MTR, MTRR, TCN2, FUT2, COMT, and CBS. If any kinks exist, you will need more than L-Methylfolate.
The COMT mutation is a large problem for many people. It certainly complicates the methylation picture, and it requires its own article. Suffice it to say that the COMT mutation is vital since it is the main contributor to the possibility of being over-methylated. If you take Methyl B12 and get anxiety or irritation, then you likely have a COMT mutation. Instead, you should be taking regular Vitamin B12 like Cyanocobalamin, Hydroxycobalamin, or Adenosylcobalamin.
Getting all of these genes tested individually through blood specimens can be quite costly. Prices usually range around $100 per gene through local lab companies (Quest, CPL, and LabCorp). I just listed 6 genes, which would cost $600. However, there might be 20 genes involved in a few years! I encourage most of my patients to get their entire human genome sequenced through a service like 23andMe.
23andMe is a genome sequencing service. They are currently the most popular and cheapest. At this time, it costs $199 to get your entire genome sequenced. After the genome is sequenced, you will have a great picture of your health, and you can unlock your methylation cycle through the PureGenomics.com free service. This service requires an invitation from Oubre Medical. If you have your 23andMe data, send us an email requesting an invite to Pure Genomics to get your methylation cycle unlocked.
23andMe offers all of my patients a 10% discount if you go through the link they have provided me:
Note: Oubre Medical does not generate any profit from 23andMe’s link.
Once your genome is sequenced, you will have a list of every gene and mutation in your DNA. Since your genome never changes, we will be able to apply new knowledge as we learn more about the human genome.
I find that in my practice, a high quality B Complex vitamin restores 90% of people’s methylation cycles. You can purchase one from my online store Here.