PerspectiveMOLECULAR MEDICINE

The Cholesterol Quartet

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Science  18 May 2001:
Vol. 292, Issue 5520, pp. 1310-1312
DOI: 10.1126/science.1061815

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Summary

A high cholesterol diet is known to promote the formation of atherosclerotic plaques in arteries, leading to coronary heart disease. However, there are four monogenic diseases in which plasma cholesterol increases independently of diet due to defects in liver LDL receptors, which fail to clear cholesterol-carrying LDLs from plasma. In a lively and informative Perspective, Brown and Goldstein discuss the newest member of the cholesterol disease quartet, autosomal recessive hypercholesterolemia (ARH), and speculate how mutations in the ARH protein could lead to defective functioning of liver LDL receptors.

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