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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Paget's disease of bone and genetic disorders of RANKL/ OPG/RANK/NF-kappaB signaling.

Identification of the RANKL/ OPG/RANK/NF-kB (receptor activator of nuclear factor kappa-B ligand / osteoprotegerin) signaling pathway as the major regulatory system for osteoclastogenesis began with discovery of these ligands and receptors in the tumor necrosis factor (TNF) superfamily. Subsequently, genetically altered mice revealed physiologic roles for these proteins in bone biology. However, full appreciation of their significance for the human skeleton came from clinical characterization of several extremely rare, heritable disorders followed by discovery of their genetic bases. Familial expansile osteolysis (FEO) is an autosomal dominant disorder featuring constitutive activation of RANK due to an 18-bp tandem duplication in its gene (TNFRSF11A). A similar, 27-bp duplication causes what has been called a familial form of early-onset Paget's disease of bone (PDB2). Expansile skeletal hyperphosphatasia (ESH) is allelic to FEO and PDB2 and involves a 15-bp tandem duplication in TNFRSF11A. Autosomal recessive inheritance of deactivating mutations of the gene encoding OPG (TNFRSF11B) causes most cases of juvenile Paget disease. These disorders feature high bone turnover, deafness during early childhood, "idiopathic external lysis" of adult teeth, and sometimes focal lesions in appendicular bones that mimic active PDB. Biochemical markers indicate rapid skeletal remodeling. In FEO, osteolysis progresses to fat-filled bone rather than to osteosclerosis. Antiresorptive therapy with bisphosphonates can be effective for each disorder.[1]


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