Identifying single nucleotide polymorphisms (SNPs) that may influence health and risk for diseases facilitates clinical support for patients. The Doctor’s Data DNA Methylation Pathway Profile includes a variety of SNPs known to influence many aspects of health including:
mitochondrial function and metabolism
SNPs are DNA sequence variations that occur relatively frequently in the general population. They are different from disease mutations, which are very rare. Huntington’s disease is an example of a disease mutation – if you inherit the altered gene, the disease will develop. Certain SNPs may be associated with particular health conditions, but they are not known to directly cause disease. The majority of SNPs affect protein, enzyme or cell receptor structure and function.
The identification of SNPs and their impact on health and physiology is an ongoing area of research – the hope is that finding and studying these small variations in DNA will lead to better and more individualized medical interventions. In many cases the environment – diet, nutrition, toxicant exposures, stress – may further modify the expression of genes and SNPs.
The SNPs affecting detoxification and methylation become even more important if a patient has been exposed to the toxicants such as mercury, lead or bisphenol A (BPA). Lead and BPA inhibit the function of methyltransferases, and mercury inhibits methionine synthase, an important enzyme in the re-methylation of homocysteine. Methylation is an essential step in the detoxification and elimination of arsenic and other xenobiotics. Normal methionine metabolism is a critical component of Phase II detoxification processes; the B-12 and folate-dependent transmethylation and B-6 dependent transsulfuration pathways convert homocysteine to cysteine. Cysteine is an important precursor in glutathione biosynthesis.
The greatest difficulty in interpreting SNP results is determining the extent to which a DNA genotype is phenotypically expressed. Functional tests, combined with evaluation of the patient’s symptoms and responses to intervention, are necessary to assess the influence of known SNPs on the phenotype. DDI’s Plasma Methylation Profile is one such test; it provides a direct assessment of several major metabolites that indicate genetic and epigenetic affects. The Plasma Methylation Profile is a functional follow-up test when SNPs affecting methionine metabolism are identified.
DDI’s DNA Methylation Pathway Profile allows clinicians to screen their patients for a variety of SNPs that may impact the function of important biochemical processes. Identifying SNPs that influence health and disease risk allows clinicians to support their patients with appropriate lifestyle changes and nutrition to maximize health and wellness.