A clinical and molecular overview of the human osteopetroses

The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made based on their mode of inheritance, age of onset, se...

Full description

Saved in:
Bibliographic Details
Published in:Calcified tissue international 2005-11, Vol.77 (5), p.263-274
Main Authors: Balemans, W, Van Wesenbeeck, L, Van Hul, W
Format: Article
Language:English
Subjects:
Bone Density - physiology
Bone Resorption - genetics
Bone Resorption - physiopathology
Humans
Osteoclasts - physiology
Osteopetrosis - genetics
Osteopetrosis - physiopathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. The best-known forms of osteopetrosis are the malignant and intermediate autosomal recessive forms and the milder autosomal dominant subtypes. In addition to these forms, a restricted number of cases have been reported in which additional clinical features unrelated to the increased bone mass occur. During the last years, molecular genetic studies have resulted in the identification of several disease-causing gene mutations. Thus far, all genes associated with a human osteopetrosis encode proteins that participate in the functioning of the differentiated osteoclast. This contributed substantially to the understanding of osteoclast functioning and the pathogenesis of the human osteopetroses and will provide deeper insights into the molecular pathways involved in other bone pathologies, including osteoporosis.
ISSN:0171-967X
1432-0827
DOI:10.1007/s00223-005-0027-6