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Current Topics in Genetics   Volumes    Volume 1 
Abstract
Genetic heterogeneity of autosomal dominant hypercholesterolemia: PCSK9, a third gene involved in the disease
Delphine Allard, Marianne Abifadel, Jean-Pierre Rabes, Mathilde Varret
Pages: 103 - 112
Number of pages: 10
Current Topics in Genetics
Volume 1 

Copyright © 2005 Research Trends. All rights reserved

ABSTRACT

Hypercholesterolemia is a main risk factor of atherosclerosis and its vascular complications. In the general population, about 1 person out of 20 presents high plasmatic LDL-cholesterol. In particular, familial forms with autosomal dominant transmission affect about 1 person out of 500. Until recently, only two genes were associated with the disease: the LDLR gene encoding a transmembranous receptor implicated in endocytosis and degradation of circulating LDL; the APOB gene encoding the main ligand of this receptor present at LDL surface. Pathophysiology of these two main forms of the disease had been extensively studied and are well understood. In 1999, two teams simult-aneously published hypercholesterolemic families presenting neither LDLR nor APOB defect and, in 2003, a third major gene responsible for Autosomal Dominant Hypercholesterolemia has finally been identified. It is named PCSK9 (Proprotein Convertase Subtilisin/Kexin type 9) and it encodes NARC-1 (Neural apoptosis regulated convertase 1), the ninth member of the family of proprotein convertases. To date, no substrate of NARC-1 has been identified. The purpose of the present paper is to collect all current knowledge in regard to PCSK9/NARC-1 in a way to help towards elucidation of its role in cholesterol homeostasis.

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