Review Article

Human Genetics

, Volume 124, Issue 6, pp 561-577

First online:

Advances in osteoclast biology resulting from the study of osteopetrotic mutations

  • T. Segovia-SilvestreAffiliated withNordic Bioscience A/S
  • , A. V. Neutzsky-WulffAffiliated withNordic Bioscience A/S
  • , M. G. SorensenAffiliated withNordic Bioscience A/S
  • , C. ChristiansenAffiliated withCenter for Clinical and Basic Research, CCBR
  • , J. BollerslevAffiliated withSection of Endocrinology, Department of Medicine, Rikshospitalet Medical Clinic, University of Oslo
  • , M. A. KarsdalAffiliated withNordic Bioscience A/S
  • , K. HenriksenAffiliated withNordic Bioscience A/S Email author 

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Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption. Based on a range of novel genetic mutations and the resulting osteoclast phenotypes, we discuss how osteopetrosis models have clarified the function of the coupling of bone formation to bone resorption, and the pivotal role of the osteoclast and their function in this phenomenon. We highlight the distinct possibility that osteoclast activities can be divided into two separate avenues: bone resorption and control of bone formation.