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Science. 2007 Mar 2;315(5816):1278-82.

LRP6 mutation in a family with early coronary disease and metabolic risk factors.

Author information

1
Department of Internal Medicine, Howard Hughes Medical Institute and Yale University School of Medicine, New Haven, CT 06510, USA. arya.mani@yale.edu

Erratum in

  • Science. 2013 Aug 30;341(6149):959.

Abstract

Coronary artery disease (CAD) is the leading cause of death worldwide and is commonly caused by a constellation of risk factors called the metabolic syndrome. We characterized a family with autosomal dominant early CAD, features of the metabolic syndrome (hyperlipidemia, hypertension, and diabetes), and osteoporosis. These traits showed genetic linkage to a short segment of chromosome 12p, in which we identified a missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway. The mutation, which substitutes cysteine for arginine at a highly conserved residue of an epidermal growth factor-like domain, impairs Wnt signaling in vitro. These results link a single gene defect in Wnt signaling to CAD and multiple cardiovascular risk factors.

PMID:
17332414
PMCID:
PMC2945222
DOI:
10.1126/science.1136370
[Indexed for MEDLINE]
Free PMC Article

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