| [ Summary ] |
Sclerosing bone disorders are caused by impaired osteoclastic bone resorption or increased bone formation. Impaired bone resorption results in osteopetrosis and related diseases such as pycnodysostosis. Osteopetrosis is a heterogeneous disease, and various molecules have been recently identified as being responsible. Infantile malignant, autosomal recessive osteopetrosis can be classified into osteoclast-rich and osteoclast-poor forms, which are caused by the dysfunction of osteoclasts and impaired osteoclastogenesis, respectively. Analysis of rare, heritable sclerosing bone disorders contributes to the understanding of molecular mechanisms underlying bone mass control. It may also lead to the development of drugs for common metabolic bone diseases, including osteoporosis. |