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.
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL / C. Sobacchi, A. Frattini, M.M. Guerrini, M. Abinun, A. Pangrazio, L. Susani, R. Bredius, G. Mancini, A. Cant, N. Bishop, P. Grabowski, A. Del Fattore, C. Messina, G. Errigo, F.P. Coxon, D.I. Scott, A. Teti, M.J. Rogers, P. Vezzoni, A. Villa, M.H. Helfrich. - In: NATURE GENETICS. - ISSN 1061-4036. - 39:8(2007 Aug), pp. 960-962.
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
M.M. Guerrini;
2007
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.
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
