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

Authors: Mani, A  Radhakrishnan, J  Wang, H 
Citation: Mani A, etal., Science. 2007 Mar 2;315(5816):1278-82.
Pubmed: (View Article at PubMed) PMID:17332414

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.

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CRRD Object Information
CRRD ID: 2298725
Created: 2008-07-18
Species: All species
Last Modified: 2008-07-18
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.