Robey Pamela Gehron, Kuznetsov Sergei, Riminucci Mara, Bianco Paolo
Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, DHHS, Bethesda, MD 20892, USA.
Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:386-94.
Stem cells have become a major area of interest in the treatment of human disease, but more recently, stem cells have come to be appreciated as the cause of disease. Fibrous dysplasia of bone and the McCune-Albright Syndrome evolve from activating missense mutations in Gsalpha in pluripotent embryonic stem cells. The legacy of these mutations remains in a population of mutated multipotent post-natal skeletal stem cells ("mesenchymal" stem cells), which direct the formation of abnormal bone and a fibrotic marrow in fibrous dysplasia. Future therapeutic approaches for the treatment of fibrous dysplasia, the most significant component of the McCune-Albright Syndrome, will depend on a greater understanding of post-natal skeletal stem cell biology and how skeletal stem cells can be manipulated for efficient bone regeneration.
干细胞已成为人类疾病治疗中一个主要的研究热点，但最近，干细胞也被认为是疾病的病因。骨纤维发育不良和McCune-Albright综合征源于多能胚胎干细胞中Gsα的激活错义突变。这些突变的影响存在于一群突变的出生后多能骨骼干细胞（“间充质”干细胞）中，这些干细胞在骨纤维发育不良中引导异常骨和纤维化骨髓的形成。治疗McCune-Albright综合征最主要组成部分骨纤维发育不良的未来治疗方法，将取决于对出生后骨骼干细胞生物学的更深入理解，以及如何操纵骨骼干细胞以实现有效的骨再生。
