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FROM THE PURSER BOOKSHELF · CHAPTER GUIDE

Genes in the homocysteine conversation

Learn how to read a specific genetic variant before drawing conclusions about homocysteine.

Based on teaching by Dan Purser, MD. How we prepare these guides

Educational summary

Why this matters

Learn how to read a specific genetic variant before drawing conclusions about homocysteine.

How the pieces connect

Folate, B12, and sulfur pathways involve many genes. The exact variant and its classification tell you more than a gene name or a colored app result.

Read the variant, not just the gene name

A gene is a set of instructions; a variant is a particular difference in those instructions. Different variants in the same gene can have very different significance. “Homozygous” describes having the same variant in both copies at a location; it is not a severity score. MTHFR C677T and A1298C therefore need to be read as specific findings in context, not as proof that all of methylation is blocked. Dr. Purser’s gene list is a map of topics to investigate.

The wider genetic map in the final book

Chapters 3–4 and 11 of Outlive Your Toxic Genetics expand the discussion from MTHFR to folate handling, B12 transport/use, SAM/SAH regulation and transsulfuration. Examples include AHCY, BHMT, FOLH1, MTR/MTRR, SHMT1, TCN2, MTHFD1/MTHFD1L, SLC19A1, CBS and CTH. These names help organize a lesson; the exact variant and clinical classification still matter. Dr. Purser’s “22 SNPs” terminology is a teaching framework, not a substitute for verifying a laboratory result or a treatment rule.

Keep in mind

A gene list cannot diagnose you. A common variant, even in both copies, does not by itself prove high homocysteine, an immune problem, or a need for supplements.

A question for your next conversation

Which exact variant was measured, and what is its clinical classification?

BUILD YOUR UNDERSTANDING

A few concepts, made clearer.

CBS

CBS is the gene symbol used for Cystathionine Beta-Synthase. This page connects its terminology with the topics in the Purser Wellness teaching encyclopedia.

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GGH

GGH is the gene symbol used for Gamma-Glutamyl Hydrolase. This page connects its terminology with the topics in the Purser Wellness teaching encyclopedia.

Read the full reference

MTHFR

Makes an enzyme that helps produce a form of folate used in the processing of homocysteine. Common variants are different from rare variants that cause severe MTHFR deficiency.

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MTR

Makes the methionine synthase enzyme, which uses vitamin B12 in the conversion of homocysteine to methionine.

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LET YOUR CURIOSITY LEAD

One idea opens another.

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