Familial hypercholesterolaemia, diagram

Familial hypercholesterolaemia, diagram

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Credit: FRANCIS LEROY, BIOCOSMOS/SCIENCE PHOTO LIBRARY

Caption: Familial hypercholesterolaemia. Diagram showing the biochemical processes that take place in a case of the genetic disorder familial hypercholesterolaemia. This disorder leads to higher blood levels of 'bad' cholesterol (low-density lipoprotein, LDL) and associated cardiovascular disease. At left the normal process involves LDL vesicles (yellow) being taken up from blood vessels into cells with LDL receptors (cup-shaped). At right, in a case of familial hypercholesterolaemia, a lack of LDL receptors cuts off the uptake, leading to increased levels of LDL in the blood. The defective gene is the one that encodes the LDL receptor protein.

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