http://hdl.handle.net/1765/36603
http://dx.doi.org/10.1038/ng2076
pubmed: 17632511
scopus: 34547521058
http://dx.doi.org/10.1038/ng2076
pubmed: 17632511
scopus: 34547521058
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
August 2007
Article
volume 39, issue 8 pp 960-962.
Repository contains one file which is not publicly available
Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene encoding RANKL (receptor activator of nuclear factor-KB ligand) in six individuals with autosomal recessive osteopetrosis whose bone biopsy specimens lacked osteoclasts. These individuals did not show any obvious defects in immunological parameters and could not be cured by hematopoietic stem cell transplantation; however, exogenous RANKL induced formation of functional osteoclasts from their monocytes, suggesting that they could, theoretically, benefit from exogenous RANKL administration.
