Description

DNA Methylation Pathway Profile

Genetic Screening for Key Biochemical Pathways

The DNA Methylation Pathway Profile tests for genetic variations that can impact crucial biochemical functions like methionine metabolism, detoxification, hormone regulation, and vitamin D activity. This noninvasive test uses a buccal swab collected at home, making it easy and accessible.

At-Home Collection | Nationwide Shipping

  • Simple buccal (cheek) swab collection kit
  • Ships within 3–5 business days
  • Lab processing takes approximately 21 business days

Detailed Biomarker Functions

ACAT1 (Acetyl-CoA Acetyltransferase 1)

ACAT1 is an enzyme involved in ketone body metabolism and fatty acid processing within mitochondria, contributing to cellular energy production. Variations in this gene may affect energy balance and influence metabolic health.

AHCY (Adenosylhomocysteinase)

AHCY regulates levels of S-adenosylhomocysteine, a molecule that inhibits methylation reactions if accumulated. Proper function of AHCY is essential to maintain methylation efficiency, impacting DNA methylation and gene expression.

BHMT (Betaine-Homocysteine Methyltransferase)

BHMT provides an alternative pathway to remethylate homocysteine into methionine using betaine as a methyl donor. This pathway is especially important when folate-dependent pathways are compromised, supporting detoxification and methylation capacity.

CBS (Cystathionine Beta-Synthase)

CBS catalyzes the first step in the transsulfuration pathway, converting homocysteine into cystathionine. This process leads to production of glutathione, a powerful antioxidant, thus CBS activity supports detoxification and protection against oxidative stress.

COMT (Catechol-O-Methyltransferase)

COMT breaks down catecholamines (dopamine, epinephrine, norepinephrine) and catechol estrogens. Genetic variants can alter enzyme activity, influencing mood, stress responses, and estrogen metabolism, potentially affecting hormonal balance and neurological health.

MAOA (Monoamine Oxidase A)

MAOA metabolizes neurotransmitters such as serotonin, dopamine, and norepinephrine. Differences in MAOA function can influence emotional regulation, anxiety, and behavior by modifying neurotransmitter levels.

MTHFR (Methylenetetrahydrofolate Reductase)

MTHFR is a crucial enzyme that converts folate into methylfolate, the active form used in methylation. Common variants (e.g., C677T, A1298C) reduce enzyme efficiency, potentially leading to elevated homocysteine, impaired DNA methylation, and increased risk for cardiovascular and neurological disorders.

MTR (Methionine Synthase)

MTR catalyzes the remethylation of homocysteine to methionine using methylcobalamin (vitamin B12). This step is critical to sustain the methylation cycle, supporting DNA repair, neurotransmitter synthesis, and detoxification pathways.

MTRR (Methionine Synthase Reductase)

MTRR regenerates active MTR by maintaining its methylcobalamin cofactor. Variants in MTRR may disrupt continuous methionine synthase activity, affecting methylation efficiency and homocysteine levels.

NOS3 (Nitric Oxide Synthase 3)

NOS3 produces nitric oxide, a signaling molecule vital for blood vessel dilation, blood pressure regulation, and cardiovascular health. Genetic variants may reduce nitric oxide production, increasing cardiovascular risk.

SHMT (Serine Hydroxymethyltransferase)

SHMT facilitates the conversion of serine to glycine, generating one-carbon units necessary for DNA synthesis and methylation. This enzyme links amino acid metabolism with methylation capacity.

SUOX (Sulfite Oxidase)

SUOX catalyzes the oxidation of sulfite to sulfate, a critical step in sulfur amino acid metabolism. Proper function supports detoxification and prevents accumulation of toxic sulfite intermediates.

VDR (Vitamin D Receptor)

VDR encodes the receptor for vitamin D, which regulates calcium absorption, immune function, and hormone activity. Genetic variants can influence vitamin D responsiveness, impacting bone health, immunity, and endocrine balance.

Why Consider This Test?

Understanding your genetic makeup related to methylation pathways provides insight into your body’s capacity for:

  • Efficient DNA methylation, which controls gene expression and cellular function
  • Detoxification processes, protecting against toxins and oxidative stress
  • Hormone metabolism, influencing mood, fertility, and overall hormonal balance
  • Vitamin D utilization, essential for bone health and immune system function

This information can help guide personalized nutrition, lifestyle, and supplement strategies to optimize health and reduce risk of chronic diseases such as cardiovascular disease, neurodegenerative conditions, and hormonal imbalances.