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Critical Reviews™ in Eukaryotic Gene Expression
Impact-faktor: 1.734 5-jähriger Impact-Faktor: 1.848 SJR: 0.627 SNIP: 0.516 CiteScore™: 1.96

ISSN Druckformat: 1045-4403
ISSN Online: 2162-6502

Critical Reviews™ in Eukaryotic Gene Expression

DOI: 10.1615/CritRevEukarGeneExpr.v17.i3.40
pages 215-240

Pathophysiology and Genetics of Metabolic Bone Disorders Characterized by Increased Bone Turnover

Greet Beyens
Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
Wim Van Hul
Department of Medical Genetics, University of Antwerp (UA) and Department of Medical Genetics, University Hospital of Antwerp (UZA)


Bone is the most important supportive tissue in the human body, and in order to maintain its integrity, it is continuously renewed by a process called "remodeling". Paget's disease of bone (PDB), familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset Paget's disease of bone (EOPDB), and juvenile Paget's disease (JPD) are all metabolic bone disorders characterized by accelerated bone remodeling. Histological studies have shown that bone-resorbing osteoclasts are the primary disease-causing cells in these disorders. In this review, we provide an overview of the clinical differences between diseases with increased bone turnover. Our main focus is on Paget's disease because this is, by far, the most common form of this type of disease. Molecular genetic studies of these disorders have revealed key players in bone remodeling and have provided further insights in signal transduction in osteoclasts. Moreover, a syndromal form of PDB has been characterized in which PDB is associated with inclusion body myopathy and frontotemporal dementia, pointing toward similar biological pathways in osteoclasts, muscle, and brain cells. However, several additional genes underlying conditions with increased bone turnover remain to be identified.

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