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

Let’s Talk About MTHFR — The Gene That Impacts Your Energy If you’re constantly tired no matter how much you rest, your MTHFR gene may be part of the reason. MTHFR (Methylenetetrahydrofolate Reductase) is a genetic SNP—a small DNA variation

The genetic-architecture chapter explains that S-adenosylmethionine (SAM) donates methyl groups and becomes S-adenosylhomocysteine (SAH).

…udied in relation to body weight and energy balance. Common variants can contribute to population-level differences in obesity susceptibility, alongside many other genes and environmental factors. Also called: Fat Mass and Obesity-Associate…

…ma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis. Also called: Presenilin 1 Presenilin and inherited neurological disease…

…ma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis. Also called: Presenilin 2 Presenilin and inherited neurological disease…

CD40LG encodes CD40 ligand, which binds CD40 and supports communication needed for effective antibody responses. It is on the X chromosome, which changes how some genetic results must be interpreted.

IL1B encodes interleukin-1 beta, a cytokine involved in inflammatory responses and fever. Its production and activation are regulated processes, not simply an on/off consequence of having a common SNP.

Encodes a transcription-factor subunit. The uploaded reference used the label GABP1; no specific variant was established there. Also called: GABP1, GA Binding Protein Transcription Factor Subunit Alpha Start here Encodes a transcription-fac…

PURSER WELLNESSCrash Course on MTHFR & Genetic TerminologyA conversation with Dr. Purser

Dr. Purser covers common terminology and phrases on MTHFR and genetics. Learn how MTHFR may be affecting how you feel! Contact us at (801) 796-7667 or info@danpursermd.com for help. Check back often for the newest updates!

…porting replacement. How Dr. Purser connects the pieces The genetics reference also discusses HFE in relation to iron handling. A current blood count, ferritin and other clinician-selected iron studies can answer different questions, and an…

…rders. Those examples should not be applied to every common SNP: having a listed variant does not establish an enzyme block, a sulfur intolerance or a need to restrict protein. A question to bring to your visit Are current nutrient/redox fi…

The Purser genetics reference places CHDH in choline metabolism, while the combined SOP asks clinicians to consider CHDH alongside PEMT and FADS findings.