Methylation Genomics

Methylation is a fundamental biochemical process that involves the addition of a methyl group (CH3) to a molecule. In the context of human biology, methylation plays a crucial role in various physiological processes, including gene expression, DNA repair, neurotransmitter synthesis, and the metabolism of hormones and toxins.

The impact of methylation on health is profound, as it influences the regulation of genes and their activity. Proper methylation is essential for normal development, cellular function, and overall well-being. Dysregulation of methylation has been implicated in various health conditions, including cancer, neurological disorders, cardiovascular diseases, developmental abnormalities, and mood disorders such as depression, ADHD, anxiety, and panic attacks.

One specific gene related to methylation that has gained attention is the MTHFR gene, which encodes an enzyme called methylenetetrahydrofolate reductase. Certain single nucleotide polymorphisms (SNPs) in the MTHFR gene, particularly the C677T and A1298C variants, can affect the activity of the MTHFR enzyme. These MTHFR SNPs have been associated with altered methylation patterns and have been the subject of research into their potential impact on health. The most studied variant, C677T, has been linked to an increased risk of conditions such as cardiovascular disease, neural tube defects, and pregnancy complications. However, the relationship between any gene polymorphisms and health outcomes is complex, and the presence of these SNPs does not guarantee the development of specific conditions. It is influenced by various factors, including genetics, lifestyle, and environmental factors.

As a result, simplistic interpretation of individual SNPs or polymorphisms theoretical effect as upregulating or downregulating, without a thorough assessment of gene expression through capturing various blood markers, is not recommended.

At White Rock Naturopathic, we use Genova Labs Methylation Panel, which is the most comprehensive and holistic lab panel currently available, to more accurately assess methylation pathway function. The panel assesses ten genomic SNPs or polymorphisms related to methylation, along with comparing levels of Methyl Group Donors (SAM, Methionine, Choline, Betaine), to both Methyl Group Metabolites (SAH, Homocysteine, DMG, Sarcosine), and Transsulfuration Metabolites.

If this sounds complicated to you, it’s because, as the diagram suggests, it is complex.

Thankfully, the Genova Labs Methylation panel provides a much more educated approach to supporting healthy methylation function based on a methylation index, or ratio of SAM to SAH levels. With the benefit of the test results, one is appropriately guided to the proper individualized nutritional support to improve or normalize their methylation, and ameliorate or prevent the potential adverse consequences associated with insufficient methylation or transsulfuration (detoxification) capacity.