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Sobacchi and colleagues discuss the clinical presentation and diagnosis of autosomal recessive osteopetrosis, a rare genetic condition characterized by increased bone mass. With a specific focus on genes linked to the disease and their function in osteoclasts, the authors describe current and potential treatments using molecular data from patients to aid diagnosis and improve clinical outcomes.
Osteoporosis can be secondary to an underlying metabolic, nutritional, pharmacologic or disease-related cause; in such cases the triggering factor should be identified and treated. Approaches to the identification and management of patients with secondary osteoporosis are outlined in this Review, alongside mechanistic insights into the bone pathology.
A new study shows in mice that tumor necrosis factor (TNF) superfamily member 11 (TNFSF11, also known as RANKL), which stimulates osteoclasts to remove bone, binds to the G-protein-coupled receptor LGR4 to prevent excessive bone removal. In mouse models of osteoporosis, a recombinant LGR4 ectodomain reduces bone loss.
Most myeloid cells express the growth-factor receptor CSF1R. Recognition of interleukin 34 by CSF1R is required for the development of tissue-resident Langerhans cells and microglia, which explains the independence of their growth from CSF1.