Methylation Defects

Methylation defects, and other genetic snippets, are a pretty hot topic these days and are strongly associated with Adrenal Dysfunction. This is a relatively new direction for medicine; hence, the environment is constantly changing as new information is released, as new research is generated, and as new patients utilize these therapies.


Methylation is a ubiquitous process used by numerous systems in the body. When this process is compromised, we may see any of the following, or a combination of any of the following: increased toxicity; inability to breakdown (or create) certain hormones and neurotransmitters; reduced ability to control free radicals; problems creating energy from ingested fuels.

These metabolic dysfunctions can lead to hundreds of significant symptoms, including but not limited to:

  • fatigue
  • depression
  • anxiety
  • addictions
  • allergies
  • immune weakness
  • cancer
  • diabetes

The Adrenal Connection:

Stress and its resultant Adrenal Dysfunction is the major cause of these genetic glitches (also known as SNPs, or single nucleotide polymorphisms) becoming exposed. Also, each one of these problems is additionally associated and exacerbated by chronic stress and Adrenal Dysfunction.

As I describe in this short video, I liken the effects of over-stimulating the stress response system to that of the arms of a seesaw. The relation of methylation defects to Adrenal Dysfunction lies on the “suppressed” side of the seesaw:

Assessment and Follow-Up

The assessment of methylation defects needs to be done methodically and scientifically. What needs to be taken into account is the epigeneticvariation (turning these genes on and off); this variation is instrumental in whether or not these defects actually express themselves. This point is crucial for us to be able to properly interpret these genetic blueprints.

This means that just because you have the genetic SNP doesn’t mean you have the metabolic defect and doesn’t mean you need to treat it. Because of this confusion concerning the expression or non-expression of the defects, and to assess whether or not patients need to treat it, we often will need to view functional analysis of methylation processes in addition to the straight genetic information.

Functional analysis can be in the form of an MMA (methylmalonic acid) for B12 function, a FIGLU (formiminoglutamic acid) for folic acid function, or possibly a homocysteine level as a functional assessment of both B12 and folic acid together. It can also come in the form of a much more comprehensive (and expensive) assessment, such as an organic acid profile such as the Metametrix ION panel.

Like keys on a piano, DNA [genetic SNPs} is the static blueprint for all the proteins that cells produce. Epigenetic information provides additional dynamic or flexible instructions as to how, where and when the blueprint will be used. It corresponds to a pianist playing a piece of music.

– Kohzoh Mitsuya, Ph.D., postdoctoral fellow in the School of Medicine at The University of Texas Health Science Center, San Antonio

In other words, we all have different pianos, with different keys, and we all have different training as a pianist. Ultimately, and to summarize the research using this analogy, the better we get at playing our own piano, the healthier we are. Stress reduction, toxin avoidance, and proper diet are the most effective training methods for the individual pianist.

The Reality

Only 30% of people with the most common methylation defect found actually “express” this gene and have actual compromised methylation. That means that 70% of people with this defect do not need to treat, and do not need to go down this potential rabbit hole of therapeutic intervention.

I have run and interpreted methylation profiles and have treated based on them, and am happy to continue to do so. Honestly, otherwise patients are put on numerous additional, often unnecessary, supplements by practitioners who have limited information and experience in treating these conditions. Ultimately, you can’t treat the methylation defect. You have to treat the person with the methylation defect.

At this time, I am attentive to methylation in the context of my overall plan to assess and treat Adrenal Dysfunction.

The best information that I’ve found is by Amy Yasko and Dr. Ben Lynch. Rich Van Konynenburg, with whom I’ve worked directly before his death in 2012, has also produced some brilliant information on this subject.

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