AI Article Synopsis
- Autosomal recessive osteopetrosis typically shows high numbers of nonfunctional osteoclasts, but in six individuals studied, there were none present in their bone biopsies.
- Researchers identified mutations in the RANKL gene, which is crucial for osteoclast development, in these affected individuals.
- Despite not responding to stem cell transplants and having normal immune function, the patient's monocytes could form functional osteoclasts when treated with exogenous RANKL, indicating a potential treatment avenue.
Article Abstract
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.
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| http://dx.doi.org/10.1038/ng2076 | DOI Listing |
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