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