Encyclopedia

PSEN2 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.

PTGS2, commonly called COX-2, encodes an enzyme involved in prostaglandin production. Prostaglandins participate in pain, fever and inflammatory signaling.

SERPINE1 makes PAI-1, a protein involved in breaking down blood clots. You may also see PAI4G used for this pathway.

SHMT1 connects serine and glycine with folate chemistry.

SOD1 helps convert superoxide inside cells as part of the body’s antioxidant defenses.

SOD2 works in mitochondria as part of the body’s antioxidant defenses.

SOD3 works outside cells as part of the body’s antioxidant defenses.

TCN2 helps carry vitamin B12 in the body. A gene result alone cannot tell you your B12 status.

TNF encodes tumor necrosis factor, an immune-signaling protein involved in inflammation, host defense and regulation of cell survival. Its name should not be read as proof that a TNF result indicates cancer.

VDR encodes the vitamin D receptor, which helps regulate gene activity in response to active vitamin D. A receptor variant does not by itself mean receptors are absent or that the blood vitamin D level is low.

VKORC1 encodes vitamin K epoxide reductase, part of the vitamin K recycling system used in activating clotting proteins. It is not simply a vitamin K receptor.

How the Purser approach moves from a nutrient finding to priorities, a manageable plan and reassessment.