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Gene & pathway reference · FROM DR. PURSER’S TEACHING

PSEN1

PSEN1 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.

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

Updated Sep 23, 2026 · Educational reference

THE TEACHING CONNECTION

Presenilin and inherited neurological disease

Presenilin and inherited neurological disease

PSEN1 encodes a presenilin protein that participates in gamma-secretase, a protein-processing complex. Some pathogenic variants can cause familial Alzheimer’s disease; a listed common marker is not equivalent to that diagnosis.

Putting the pieces together

Dr. Purser includes PSEN1 in his brain-health teaching and discusses antioxidant support in that broader context. A family pattern of early-onset dementia or a pathogenic laboratory classification needs genetic counseling and specialist review. A supplement should not be presented as proven prevention of familial Alzheimer’s disease from this marker.

A question to bring to your visit

Is this a clinically classified pathogenic variant, or a marker without an established disease-causing interpretation?

Variant lookup

These names can help you find an entry on your original genetic report. Seeing a name here does not tell you whether it affects your health or whether you need treatment.

Names you may see

Presenilin 1