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

Cristina Sobacchi; Annalisa Frattini; Matteo M. Guerrini; Mario Abinun; Alessandra Pangrazio; Lucia Susani; Robbert Bredius; Grazia Mancini; Andrew Cant; Nick Bishop; Peter Grabowski; Andrea Del Fattore; Chiara Messina; Gabriella Errigo; Fraser Coxon; Debbie I. Scott; Anna Teti; Michael John Rogers; Paolo Vezzoni; Anna Villa; Marie Hermine Helfrich

doi:10.1038/NG2076

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

Cristina Sobacchi, Annalisa Frattini^* (Corresponding Author), Matteo M. Guerrini, Mario Abinun, Alessandra Pangrazio, Lucia Susani, Robbert Bredius, Grazia Mancini, Andrew Cant, Nick Bishop, Peter Grabowski, Andrea Del Fattore, Chiara Messina, Gabriella Errigo, Fraser Coxon, Debbie I. Scott, Anna Teti, Michael John Rogers, Paolo Vezzoni, Anna VillaMarie Hermine Helfrich

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

335 Citations (Scopus)

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.

Original language	English
Pages (from-to)	960-962
Number of pages	3
Journal	Nature Genetics
Volume	39
Issue number	8
Early online date	15 Jul 2007
DOIs	https://doi.org/10.1038/NG2076
Publication status	Published - 1 Aug 2007

Keywords

autosomal recessive osteopetrosis
mice
deficiency
regulator
defects
rescue
mouse

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Sobacchi, C., Frattini, A., Guerrini, M. M., Abinun, M., Pangrazio, A., Susani, L., Bredius, R., Mancini, G., Cant, A., Bishop, N., Grabowski, P., Del Fattore, A., Messina, C., Errigo, G., Coxon, F., Scott, D. I., Teti, A., Rogers, M. J., Vezzoni, P., ... Helfrich, M. H. (2007). Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nature Genetics, 39(8), 960-962. https://doi.org/10.1038/NG2076

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, F, Scott, DI, Teti, A, Rogers, MJ, Vezzoni, P, Villa, A & Helfrich, MH 2007, 'Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL', Nature Genetics, vol. 39, no. 8, pp. 960-962. https://doi.org/10.1038/NG2076

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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.",

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AU - Sobacchi, Cristina

AU - Frattini, Annalisa

AU - Guerrini, Matteo M.

AU - Abinun, Mario

AU - Pangrazio, Alessandra

AU - Susani, Lucia

AU - Bredius, Robbert

AU - Mancini, Grazia

AU - Cant, Andrew

AU - Bishop, Nick

AU - Grabowski, Peter

AU - Del Fattore, Andrea

AU - Messina, Chiara

AU - Errigo, Gabriella

AU - Coxon, Fraser

AU - Scott, Debbie I.

AU - Teti, Anna

AU - Rogers, Michael John

AU - Vezzoni, Paolo

AU - Villa, Anna

AU - Helfrich, Marie Hermine

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AB - 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.

KW - autosomal recessive osteopetrosis

KW - mice

KW - deficiency

KW - regulator

KW - defects

KW - rescue

KW - mouse

U2 - 10.1038/NG2076

DO - 10.1038/NG2076

M3 - Article

SN - 1061-4036

VL - 39

SP - 960

EP - 962

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

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

Abstract

Keywords

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