Centre of Medical Genetics, University of Antwerp & University Hospital Antwerp, Antwerp, Belgium.
Curr Osteoporos Rep. 2018 Jun;16(3):256-268. doi: 10.1007/s11914-018-0439-7.
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.
Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. 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.
硬化性骨病群涵盖了多种以骨量增加为特征的疾病。在这篇综述中，我们概述了这组异质性疾病的遗传原因，并简要讨论了这些发现对新型治疗药物开发的价值。
下一代测序技术的进步正在加速对骨骼发育不良发病机制的分子剖析。多年来，这些疾病的遗传原因已经被广泛研究，这导致了各种致病基因和途径的确定，这些基因和途径涉及成骨细胞的骨形成、破骨细胞的骨吸收，或这两个过程。由于这些知识的迅速增加，对骨代谢调控机制的认识也在不断提高，为减少骨量和增加骨脆性的疾病确定了新的治疗靶点。
