Let’s explore “Genetic variants / SNP findings — lab reference”

A reading guide to Dr. Purser’s chapter listing genetic variants discussed in relation to elevated homocysteine.

The homocysteine chapters include MTHFD1L in the wider folate-related genetic map.

…rm of folate used in the processing of homocysteine. Common variants are different from rare variants that cause severe MTHFR deficiency. Also called: Methylenetetrahydrofolate Reductase, C677T, A1298C, folate, homocysteine Follow the pathw…

PURSER WELLNESSWhat Happens If You Have A Gene SNP?A conversation with Dr. Purser

Genetic SNPs are tiny changes in your DNA that can drastically affect how well your enzymes and proteins work. For example, being homozygous for MTHFR C677T leaves that enzyme functioning at only about 30% efficiency, which can drain your energy and impair folate processing. Similarly, errors in SOD genes reduce your body’s ability to neutralize free radicals. While we can’t change your genes, we can work around them by identifying these weaknesses and filling the gaps with targeted nutrition and supplementation—helping your body function closer to its full potential.

Genetic variations in the MTHFR gene can affect the activity or function of the enzyme. The most well-known genetic variants are known as MTHFR C677T and MTHFR A1298C. These variations can lead to reduced enzyme activity, impacting the body

PURSER WELLNESSHigh homocysteine isn’t just a lab number—it’s a warning sign.A conversation with Dr. Purser

…thylation cycle. And so both of these together, if you have genetic errors in your methylation cycle such as MTHFR, MTR, MTRR, GGH and many others, this directly affects your homoyine production in the transforation pathway. So MTHFR could …

PURSER WELLNESSThe Hidden Molecule Driving Inflammation: Understanding the Purser Model of HomocysteineFrom the reading room

…stem becomes disrupted—because of nutritional deficiencies, genetics, or oxidative stress—homocysteine begins to accumulate . Traditionally, the focus was on lowering the number itself. The Purser Model suggests something more important is …

HFE helps regulate iron absorption through signaling that influences hepcidin. The commonly discussed C282Y and H63D variants correspond to rs1800562 and rs1799945. Their implications depend on the combination present and clinical findings.

NAT2 encodes N-acetyltransferase 2, which helps process certain drugs and other compounds. Combinations of variants can influence acetylation status; one SNP usually does not tell the entire story.

Makes an enzyme involved in producing phosphatidylcholine, a component of cell membranes. Genetic findings alone do not establish a choline deficiency.

… context and changes over time; do not assume that a common SNP means homocysteine cannot change. Lowering a marker is also not the same as demonstrating prevention of every associated disease. The Purser model: cytokine sensitivity and red…

👋 Ever stared at your lab results and thought, “What am I even looking at here?” We hear that all the time with our CMA with Redox testing. Patients get TWO pages of results, and without a clear explanation it can feel overwhelming. In t…