Jacobsen Christina M
Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital, Boston, MA, United States; Division of Endocrinology, Boston Children's Hospital, Boston, MA, United States; Division of Genetics, Boston Children's Hospital, Boston, MA, United States; Department of Pediatrics, Harvard Medical School, Boston, MA, United States.
Bone. 2017 Mar;96:18-23. doi: 10.1016/j.bone.2016.10.018. Epub 2016 Oct 22.
Sclerostin, a known inhibitor of the low density lipoprotein related protein 5 and 6 (LRP5 and LRP6) cell surface signaling receptors, is integral in the maintenance of normal bone mass and strength. Patients with loss of function mutations in SOST or missense mutations in LRP5 that prevent Sclerostin from binding and inhibiting the receptor, have significantly increased bone mass. This observation leads to the development of Sclerostin neutralizing therapies to increase bone mass and strength. Anti-Sclerostin therapy has been shown to be effective at increasing bone density and strength in animal models and patients with osteoporosis. Loss of function of Sost or treatment with a Sclerostin neutralizing antibody improves bone properties in animal models of Osteoporosis Pseudoglioma syndrome (OPPG), likely due to action through the LRP6 receptor, which suggests patients may benefit from these therapies. Sclerostin antibody is effective at improving bone properties in mouse models of Osteogenesis Imperfecta, a genetic disorder of low bone mass and fragility due to type I collagen mutations, in as little as two weeks after initiation of therapy. However, these improvements are due to increases in bone quantity as the quality (brittleness) of bone remains unaffected. Similarly, Sclerostin antibody treatment improves bone density in animal models of other diseases. Sclerostin neutralizing therapies are likely to benefit many patients with genetic disorders of bone, as well as other forms of metabolic bone disease.
硬化蛋白是低密度脂蛋白相关蛋白5和6(LRP5和LRP6)细胞表面信号受体的已知抑制剂,在维持正常骨量和骨强度方面不可或缺。SOST功能丧失突变或LRP5错义突变导致硬化蛋白无法结合并抑制该受体的患者,骨量显著增加。这一观察结果促使了旨在增加骨量和骨强度的硬化蛋白中和疗法的研发。在动物模型和骨质疏松症患者中,抗硬化蛋白疗法已被证明在增加骨密度和骨强度方面有效。Sost功能丧失或使用硬化蛋白中和抗体治疗可改善假性胶质瘤综合征骨质疏松症(OPPG)动物模型的骨特性,这可能是通过LRP6受体起作用,这表明患者可能从这些疗法中获益。硬化蛋白抗体在成骨不全小鼠模型中可有效改善骨特性,成骨不全是一种因I型胶原突变导致骨量低和骨脆性增加的遗传性疾病,治疗开始后短短两周即可见效。然而,这些改善是由于骨量增加,因为骨的质量(脆性)并未受到影响。同样,硬化蛋白抗体治疗可改善其他疾病动物模型的骨密度。硬化蛋白中和疗法可能会使许多患有遗传性骨疾病以及其他形式代谢性骨病的患者受益。