Beyond MTHFR and the Role of Nutrigenomics
I genuinely love being a naturopathic doctor, particularly one with a focus on functional genetics and environmental medicine. My knowledge allows me to merge modern research on genes, nutrition, and supplementation with the wisdom of ancient medicine. Functional genetics found me unexpectedly. After graduating from naturopathic medical school, I attended an environmental medicine conference that opened my eyes to innovative techniques for removing toxins more efficiently, reducing symptoms, and investigating the causes and pathophysiology of chronic illnesses, cancer, and more. This conference covered functional genetics, the methylation pathway, detox protocols, and various case studies. From that point forward, I became deeply passionate about nutrigenomics.
What is Nutrigenomics?
Nutrigenomics is the study of how natural products and supplements interact with specific genes to decrease the risk of disease or enhance certain bodily functions. As I delved deeper into this field, I realized it represented the most personalized approach to medicine. With my love for biochemistry, it made perfect sense to me, it helped me understand health at the cellular level. I firmly believe that genetic weaknesses, often exacerbated by our toxic environment, can be the root cause of many diseases. Let’s explore this in more detail.
In my practice, I analyze thousands of different genes that code for enzymes and proteins involved in your body’s biochemical and physiological processes. This analysis reveals genetic weaknesses or overactivity in specific pathways, which may require additional nutrients or sometimes the opposite, something to calm them down. This approach allows me to choose supplements based not only on nutrient deficiencies and symptoms but also on an individual's unique genetic makeup. As a naturopathic doctor, I find the one-size-fits-all approach frustrating, especially when it comes to detoxification.
The Importance of Personalization in Detox Protocols
I often encounter clients who have undergone parasitic, heavy metal, and mold detox protocols that were not personalized, and I see the consequences. Many of my clients with chronic illnesses have shared that they were given a detox protocol by a functional medicine doctor or naturopath that triggered or worsened their symptoms. This is known as a Herxheimer reaction, a short-term detox reaction, or "die-off," that occurs when bacteria, parasites, viruses, and toxins like heavy metals and mold are released, but the body's detox pathways aren't fully open. This can result from nutrient deficiencies, chronic medication use, weakened biochemical pathways, and gene mutations, leading to symptoms such as flu-like illness, muscle/joint pain, psychotic episodes, and skin rashes. In my industry, it’s often said that this reaction indicates the body is moving in the right direction. I disagree. To me, it signals that the body is not yet prepared to remove these toxins. Clients often report that they haven't felt the same since “herxing” and have become even more sensitive to their environment, making my job of restoring them to homeostasis even more challenging.
When I examine my clients' genetic makeup, it becomes clear why they are so sensitive and why they may struggle with toxicity. It all begins with the methylation pathway.
The Methylation Pathway: The Foundation of Genetic Health
The methylation pathway is at the core of genetics. It is a crucial biochemical process that occurs over a billion times per second in the human body, playing a vital role in DNA repair, neurotransmitter production (chemical messengers in the brain that help cells communicate), detoxifying mold, pharmaceutical drugs, heavy metals, and so much more.
One common misconception is that methylation-related issues revolve solely around the MTHFR gene. While MTHFR is indeed important, focusing on a single SNP (single nucleotide polymorphism), without considering the entire pathway can lead to misguided treatment strategies. For example, while high doses of a specific supplement may improve one aspect of the methylation cycle, they might negatively impact other parts of the pathway. The MTHFR gene is often the focus of discussions around methylation, but it’s only one piece of a much larger puzzle. In this discussion, we’ll explore the broader spectrum of genes involved in methylation and how tailored nutritional support can help optimize this critical pathway.
Understanding the Methylation Cycle
The methylation cycle involves the transfer of methyl groups, which are small molecules essential for a variety of bodily functions. When activity in this pathway decreases, it results in a shortage of these critical functional groups, potentially leading to a host of health issues. The methylation cycle interacts with epigenetic factors, which is how things from our environment influence our gene/DNA expression. Methyl groups can help compensate for genetic mutations. However, when mutations occur within the methylation cycle itself, the body may lose the ability to benefit from this protective mechanism.
The methylation pathway is fundamentally a nutritional pathway, meaning that dietary choices and supplements play a vital role in maintaining its balance and function. In today’s world, we face prolonged nutrient deficiencies, an excessive load of toxins that tax this pathway, and the consumption of fortified vitamins like folic acid, which the body cannot efficiently utilize, leading to the exacerbation of genetic issues.
Conditions Linked to Methylation Pathway Inefficiencies
The methylation cycle is complex, and inefficiencies or mutations along these pathways can result in a wide range of conditions, including:
Aging Prematurely
Allergic Reactions
Anxiety
Arthritis
Autism
Bowel Dysfunction
Chronic Infections
Chronic Pain
Heart Disease
Language & Cognitive Impairment
Leaky Gut
Psoriasis
Sluggish Detoxification
Seizures
Sleep Problems
Thyroid Disorders
Tailored Nutrition: Supporting Your Methylation Cycle
Once you’ve identified your genetic variations, the next step is to implement a tailored nutrition plan. Here are some general guidelines based on common methylation-related SNPs:
For COMT Variations: Consider supporting dopamine metabolism with magnesium, SAM-e (if tolerated), and methylfolate. Avoid high doses of methyl donors if you have a slow COMT variant, as this can lead to overstimulation.
For MTR/MTRR Variations: Methylcobalamin, Hydroxocobalamin, and Adenosylcobalamin, combined with fulvic acid or lithium orotate would be protective. Methylfolate is also essential to support these pathways, especially if you have a mutation that impairs the conversion of homocysteine to methionine.
For MTHFR Variations: Ensure adequate intake of methylfolate and folinic acid, the active forms of folate, to bypass common MTHFR mutations. It may also be beneficial to support the methylation cycle with B vitamins, particularly B2, B6, and B12, in their active forms. It’s also wise to avoid fortified and enriched foods.
For CBS Variations: Managing sulfur levels and supporting detoxification with molybdenum, taurine, and a low-sulfur diet can be beneficial. Careful monitoring of homocysteine levels is crucial.
For BHMT Variations: Betaine (trimethylglycine, TMG) can help lower homocysteine and ensure this part of the pathway is functioning well, which is particularly useful for those with MTHFR mutations.
For PEMT Variations: Supplementing with choline or phosphatidylcholine can help support phosphatidylcholine production, especially in individuals with PEMT mutations. Since PEMT relies on methylation, ensuring adequate intake of methyl donors like methylfolate, methylcobalamin, and betaine (TMG) can also be beneficial.
Tests I Use to Evaluate My Clients and the Methylation Cycle
Functional Genomics Analysis Test ($700):
The test itself costs $350, and it takes several hours to create a summary and compile the results for my clients.
This genetic test examines the methylation pathway in its entirety, along with other related factors.
Methylation Profile Serum Test ($175):
This test helps identify blood biomarkers related to the methylation pathway, including transsulfuration, another important detox pathway.
It indicates which parts of the methylation cycle need support and highlights potential nutrient deficiencies.
Organic Acid Test (OAT) ($300):
This test reveals methylation issues as well as B vitamin deficiencies. It provides a comprehensive metabolic analysis of a patient's overall health, including insights into intestinal yeast and bacteria, vitamin and mineral levels, oxidative stress, neurotransmitter levels, and oxalates.
The OAT measures specific organic acids, including nutritional markers that may indicate methylation problems. For instance, the OAT evaluates chemicals related to folate metabolism, which is linked to the methylation cycle that supports DNA function and metabolism.
Serum Homocysteine Test:
This is an inflammatory biomarker associated with cardiovascular disease and can indicate whether the methylation pathway needs further investigation.
Personalized Health Through Nutrigenomics
Methylation is a complex but vital process, and understanding your unique genetic makeup is the first step toward optimizing it. By taking a personalized approach, you can make more informed choices about the supplements and dietary changes that will best support your health. The goal is to bypass genetic weaknesses and keep your methylation cycle and your overall health on the right track.
