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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Lookup NU author(s): Dr Mario Abinun, Professor Andrew Cant

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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. © 2007 Nature Publishing Group.

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Author(s): Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2007

Volume: 39

Issue: 8

Pages: 960-962

Print publication date: 01/08/2007

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ng2076

DOI: 10.1038/ng2076

PubMed id: 17632511

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