PEMT gene mutation
By Russell Browne (Dip. Adv. Nut.) · Specialist in Genetic Nutrition & Methylation Protocols
The PEMT changes people call a “mutation” are common polymorphisms (variants), not rare defects. This page explains what the PEMT gene does, what the research supports around choline, and what we observe in clinical practice.
What is a PEMT gene mutation?
A PEMT “mutation” — more accurately a common gene polymorphism or variant — is a widespread variation that can influence how this gene and its enzyme work. These are common variants that shift relative likelihoods, not switches that determine your health.
What the PEMT gene does
PEMT provides instructions for an enzyme that helps make phosphatidylcholine — a key building block of cell membranes and a form of choline — using a methyl group from SAMe. It links methylation to the body’s own choline supply, and its activity is influenced by estrogen.
New to all this? Start with the overview
Bad Genes – The Genetic Advantage by Russell Browne is a plain-English tour of the common gene variants that most influence health — the ideal companion to your variant report, and a great place to see how the individual genes fit together.
PEMT, choline and methylation
Because PEMT is one way the body produces choline-containing phospholipids, its variants are discussed in relation to choline requirements. Research has looked at PEMT in the context of choline needs, pregnancy, and liver health — with effects from common variants that are modest and individual.
PEMT Variants: What the Research Shows, and What We See in Practice
There is a lot written about these genes online, and much of it overstates the case. We separate two kinds of information: what the published research has found, and — kept distinct from it — the patterns we have observed in clinical practice.
What the research shows
PEMT variants have been studied for associations with choline requirements and related measures, including in pregnancy and liver-health research, with modest and variable findings.
Three things are essential to keep in view about this research:
- These variants are common — a large share of the population carries them.
- The findings are associations — relative shifts in likelihood across groups — not causation. A variant does not, by itself, cause any condition.
- Many people who carry these variants experience none of the associated patterns. Genes are one influence among many.
What we observe in clinical practice
A pattern we have observed is that choline needs appear to vary between individuals, and choline is worth considering as part of the wider picture. This is a clinical observation assessed case by case — not a directive to supplement based on a genotype alone. Diet and supplement decisions should be made with your practitioner.
How to find your PEMT result
Your existing 23andMe or AncestryDNA raw data file already contains your PEMT markers — you do not need a new test. Uploading it produces a plain-language variant report showing your PEMT result (and many others), which you can then review with your practitioner in the context of your whole health picture.
Order or view your report · Find a practitioner
Important note
This page is educational and is not a diagnosis or a treatment plan. These variants are common and shift relative likelihood, not certainty; many people who carry them experience none of the patterns described here. The clinical observations reflect what we have seen in practice and will not apply to everyone. Anything you wish to act on should be assessed individually with a qualified practitioner who can consider your full history, symptoms, and any relevant testing.
About the Author
Russell Browne (Dip. Adv. Nut.)
Specialist in Genetic Nutrition & Methylation Protocols
Russell Browne is a qualified practitioner of Advanced Nutrition, Advanced Herbalism, and Homeopathy, with a specialized clinical focus on genetic nutrition, methylation pathways, and detoxification. With years of dedicated clinical experience helping patients decode complex chronic health issues, Russell is also the author of How to Treat Your MTHFR Gene Mutations the Right Way – The Genetic Advantage and several works on genetic wellness. He is committed to bridging the gap between complex genetic data and practical, root-cause clinical care.
Read Russell’s Full Professional Profile & Clinical Credentials
View Published Genetic Health Literature & Books
If you have problems with elevated cholesterol and or triglycerides, think PEMT problem.
Treating PEMT gene mutations
If you suspect you may have symptoms related to the PEMT gene mutations or you want to prevent these conditions, the first thing to do is get your ancestry raw data and upload it to our app, this will show your PEMT genes and provide the status of the mutations.
Once you confirm if you have PEMT mutations the best thing you can do is work with a practitioner who understand epigenetics and nutrigenomics via a consultation here.