Monogenic hypercholesterolemias: New genes, new drug targets

Monogenic hypercholesterolemias: New genes, new drug targets This review is focused on recent data on structure and functions of PCSK9 proprotein convertase, a newly identified participant in cholesterol metabolism in mammalian organisms, including humans. Proprotein convertase acts as a molecular chaperone for the low density lipoprotein (LDL) receptor, targeting it to the lysosomal degradation pathway. Various mutations increasing the PCSK9 affinity toward the LDL receptor cause autosomal dominant hypercholesterolemia. In contrast, loss-of-function mutations in PCSK9 gene decrease the blood plasma cholesterol level, thus acting as a protection factor against atherosclerosis and coronary heart disease. It is supposed that pharmacological agents inhibiting the interaction between PCSK9 and LDL receptor may substantially amplify the benefits of drugs—statins and cholesterol absorption blockers—in the treatment of all types of hypercholesterolemia, including its widespread multigenic and multifactorial forms. Russian Journal of Genetics Springer Journals

Monogenic hypercholesterolemias: New genes, new drug targets

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SP MAIK Nauka/Interperiodica
Copyright © 2008 by MAIK Nauka
Biomedicine; Microbial Genetics and Genomics; Animal Genetics and Genomics; Human Genetics
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