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

Science (New York, N.Y.) (2007-03-03)
Arya Mani, Jayaram Radhakrishnan, He Wang, Alaleh Mani, Mohammad-Ali Mani, Carol Nelson-Williams, Khary S Carew, Shrikant Mane, Hossein Najmabadi, Dan Wu, Richard P Lifton
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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Anti-LRP6 antibody produced in rabbit, ~1.5 mg/mL, affinity isolated antibody, buffered aqueous solution
Sigma-Aldrich
Anti-LRP6 (C-terminal) antibody produced in rabbit, ~1.5 mg/mL, affinity isolated antibody, buffered aqueous solution

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