Knowledge of the transport pathways for cholesterol in blood helps us to understand the mechanisms underlying genetic and acquired forms of hypercholesterolaemia, and sets the stage for rational treatment with diet and drugs. A key element is a cell-surface receptor that binds cholesterol-rich lipoproteins of intermediate and low density. Genetic defects in this low-density lipoprotein receptor cause familial hypercholesterolaemia, an autosomal-dominant disease that affects 1 in 500 persons. An acquired deficiency in this receptor can be produced by diets that are rich in cholesterol and saturated fatty acids. This suppression may play a role in diet-induced hypercholesterolaemia.
- Familial hypercholesterolaemia
ASJC Scopus subject areas
- Internal Medicine
- Cardiology and Cardiovascular Medicine