Challenge of the Week / Basic Science / 01.29.21

If there is a gene defect in the Wnt gene causing decreased binding of Wnt to its receptor on the osteoblast cell surface, which of the following is the outcome?

    • Hard but brittle bone
    • Reports have linked mutations in the WNT1 gene (not receptors) to osteogenesis imperfecta, a disease characterized by the presence of brittle bone that is easily fractured.

 

    • Increased ligamentous laxity
    • The Wnt pathway is not currently associated with significant clinical pathological manifestations in ligaments.

 

    • Decreased peak bone mass and earlier-onset osteoporosis
    • Loss-of-function mutations in LRP5 receptors found in the Wnt receptor complexes are associated with changes in bone mineral density and fractures and cause osteoporosis-pseudoglioma syndrome.

 

    • Increased peak bone mass and decreased risk of osteoporosis
    • Loss–of-function mutations in LRP5 receptors found in the Wnt receptor complexes are associated with changes in bone mineral density and fractures and cause osteoporosis-pseudoglioma syndrome.

     

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