首页 | 本学科首页   官方微博 | 高级检索  
     


Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Authors:Sobacchi Cristina  Frattini Annalisa  Guerrini Matteo M  Abinun Mario  Pangrazio Alessandra  Susani Lucia  Bredius Robbert  Mancini Grazia  Cant Andrew  Bishop Nick  Grabowski Peter  Del Fattore Andrea  Messina Chiara  Errigo Gabriella  Coxon Fraser P  Scott Debbie I  Teti Anna  Rogers Michael J  Vezzoni Paolo  Villa Anna  Helfrich Miep H
Affiliation:Institute of Biomedical Technologies, Consiglio Nazionale delle Ricerche, via F. Cervi 93, 20090 Segrate, Italy.
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.
Keywords:
本文献已被 PubMed 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号