Suscripción a Biblioteca: Guest
Portal Digitalde Biblioteca Digital eLibros Revistas Referencias y Libros de Ponencias Colecciones
Critical Reviews™ in Eukaryotic Gene Expression
Factor de Impacto: 2.156 Factor de Impacto de 5 años: 2.255 SJR: 0.649 SNIP: 0.599 CiteScore™: 3

ISSN Imprimir: 1045-4403
ISSN En Línea: 2162-6502

Volumen 30, 2020 Volumen 29, 2019 Volumen 28, 2018 Volumen 27, 2017 Volumen 26, 2016 Volumen 25, 2015 Volumen 24, 2014 Volumen 23, 2013 Volumen 22, 2012 Volumen 21, 2011 Volumen 20, 2010 Volumen 19, 2009 Volumen 18, 2008 Volumen 17, 2007 Volumen 16, 2006 Volumen 15, 2005 Volumen 14, 2004 Volumen 13, 2003 Volumen 12, 2002 Volumen 11, 2001 Volumen 10, 2000 Volumen 9, 1999 Volumen 8, 1998 Volumen 7, 1997 Volumen 6, 1996 Volumen 5, 1995 Volumen 4, 1994

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.

Articles with similar content:

Functional Implications of BRCA1 for Early Detection, Prevention, and Treatment of Breast Cancer
Critical Reviews™ in Eukaryotic Gene Expression, Vol.16, 2006, issue 3
Alvaro N. A. Monteiro, Virna Dapic
Approaches for Skeletal Gene Therapy
Critical Reviews™ in Eukaryotic Gene Expression, Vol.12, 2002, issue 3
Paul D. Robbins, Christopher Niyibizi, Corey J. Wallach, Zhibao Mi
Therapeutic Angiogenesis: A Case for Targeted, Regulated Gene Delivery
Critical Reviews™ in Eukaryotic Gene Expression, Vol.10, 2000, issue 2
Keith A. Webster
Signaling Networks that Control the Lineage Commitment and Differentiation of Bone Cells
Critical Reviews™ in Eukaryotic Gene Expression, Vol.19, 2009, issue 1
Shuying Yang, Wei Chen, Carrie S. Soltanoff, Yi-Ping Li
Role of Bone Regeneration and Turnover Modulators in Control of Fracture
Critical Reviews™ in Eukaryotic Gene Expression, Vol.17, 2007, issue 3
Shimon Meretyk, Dina Lewinson, Michael Soudry, Nimrod Rozen, Tova Bick