What are Single Nucleotide Polymorphisms (SNPs)?

The genes that encode different enzymes, such as MTHFR and MTR, are prone to common mutations, or SNPs, many of which affect the entire methylation balance. These SNPs change the gene’s “instruction manual,” encoding a protein with altered shape, activity, stability and/ or abundance (Figures 1-2).

More than half of the population has SNPs that reduce the activity of one or more enzymes by up to 70%. Several SNPs directly affect nutrient assimilation and response to supplementation. A targeted nutritional approach is the most effective way to address these common variations.

Figure 1:

The C677T SNP in the MTHFR enzyme is one of the most common SNPs. Like other SNPs, it is a mutation of a single “letter” in the gene sequence. In this example, the C (cytosine) is mutated to a T (thymidine). This reduces the enzyme activity by up to 70%.

Figure 2:

SNPs often alter the shape and/or reduce the function of enzymes. Rarely, SNPs can improve the function of enzymes (not shown).