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
Institute of Biomedical Technologies, Consiglio Nazionale delle Ricerche, via F. Cervi 93, 20090 Segrate, Italy.
Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15.
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.
常染色体隐性遗传性骨质石化症通常与数量正常或增多的无功能破骨细胞相关。在此，我们报告了6例常染色体隐性遗传性骨质石化症患者的核因子κB受体活化因子配体（RANKL）编码基因突变情况，这些患者的骨活检标本中缺乏破骨细胞。这些患者在免疫参数方面未表现出任何明显缺陷，且不能通过造血干细胞移植治愈；然而，外源性RANKL可诱导其单核细胞形成功能性破骨细胞，这表明从理论上讲，他们可能受益于外源性RANKL给药。
