sost/硬骨素，一种由骨细胞衍生的骨形成负调节因子。

SOST/sclerostin, an osteocyte-derived negative regulator of bone formation.

作者信息

van Bezooijen Rutger L, ten Dijke Peter, Papapoulos Socrates E, Löwik Clemens W G M

机构信息

Department of Endocrinology and metabolic Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

出版信息

Cytokine Growth Factor Rev. 2005 Jun;16(3):319-27. doi: 10.1016/j.cytogfr.2005.02.005.

DOI:10.1016/j.cytogfr.2005.02.005

PMID:15869900

Abstract

Sclerosteosis and Van Buchem disease are two closely related bone disorders characterized by progressive bone thickening due to increased bone formation. Sclerosteosis is associated with mutations in the SOST gene and Van Buchem disease with a 52 kb deletion downstream of the SOST gene that probably affects transcription of the gene. Expression of the gene product sclerostin in bone is restricted to osteocytes and it is a negative regulator of bone formation. It inhibits BMP-stimulated bone formation, but cannot antagonize all BMP responses. The exclusive bone phenotype of good quality of patients with sclerosteosis and Van Buchem disease and the specific localization of sclerostin make it an attractive target for the development of bone forming therapeutics.

摘要

骨硬化症和范布赫姆病是两种密切相关的骨骼疾病，其特征是由于骨形成增加导致骨骼进行性增厚。骨硬化症与SOST基因突变有关，而范布赫姆病与SOST基因下游52 kb的缺失有关，该缺失可能影响该基因的转录。骨硬化蛋白基因产物在骨中的表达仅限于骨细胞，它是骨形成的负调节因子。它抑制骨形态发生蛋白（BMP）刺激的骨形成，但不能拮抗所有BMP反应。骨硬化症和范布赫姆病患者优质的独特骨骼表型以及骨硬化蛋白的特定定位使其成为骨形成治疗药物开发的一个有吸引力的靶点。