Functional analysis of disease-associated polymorphism LRP5.Q89R.

ABSTRACT:

Purpose

The canonical wingless and Int1 (Wnt) signaling pathway plays key roles in multiple biologic events. The pathway co-receptor, low density lipoprotein receptor-related protein 5 (LRP5), is involved in the pathogenesis of retinal diseases and has been implicated in glaucoma. We studied whether a disease-associated polymorphism LRP5.Q89R, which is located in the second blade of the first β-propeller domain, directly alters Wnt signaling activity with cell-based assays.

Methods

The LRP5.Q89R polymorphism was evaluated by transfection of HEK293T or GTM3 cells with expression vectors. LRP5 expression and interaction with the molecular chaperone mesoderm development (MESD) were determined by western immunoblotting and co-immunoprecipitation analyses. To compare membrane-ass

SUBMITTER: Mao W 

PROVIDER: S-EPMC3081804 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature