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Current Osteoporosis Reports

Erschienen in:

14.04.2018 | Genetics (M Johnson and S Ralston, Section Editors)

Human Genetics of Sclerosing Bone Disorders

verfasst von: Raphaël De Ridder, Eveline Boudin, Geert Mortier, Wim Van Hul

Erschienen in: Current Osteoporosis Reports | Ausgabe 3/2018

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Abstract

Purpose of Review

The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents.

Recent Findings

Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias.

Summary

Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.

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Titel: Human Genetics of Sclerosing Bone Disorders
verfasst von: Raphaël De Ridder
Eveline Boudin
Geert Mortier
Wim Van Hul
Publikationsdatum: 14.04.2018
Verlag: Springer US
Erschienen in: Current Osteoporosis Reports / Ausgabe 3/2018
Print ISSN: 1544-1873
Elektronische ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-018-0439-7

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Human Genetics of Sclerosing Bone Disorders

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