Chen I-Ping
Department of Oral Health and Diagnostic Sciences, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA;
J Clin Med. 2014 Dec 17;3(4):1490-510. doi: 10.3390/jcm3041490.
More than 500 rare genetic bone disorders have been described, but for many of them only limited treatment options are available. Challenges for studying these bone diseases come from a lack of suitable animal models and unavailability of skeletal tissues for studies. Effectors for skeletal abnormalities of bone disorders may be abnormal bone formation directed by osteoblasts or anomalous bone resorption by osteoclasts, or both. Patient-specific induced pluripotent stem cells (iPSCs) can be generated from somatic cells of various tissue sources and in theory can be differentiated into any desired cell type. However, successful differentiation of hiPSCs into functional bone cells is still a challenge. Our group focuses on the use of human iPSCs (hiPSCs) to identify osteoclast defects in craniometaphyseal dysplasia. In this review, we describe the impact of stem cell technology on research for better treatment of such disorders, the generation of hiPSCs from patients with rare genetic bone disorders and current protocols for differentiating hiPSCs into osteoclasts.
已描述了500多种罕见的遗传性骨疾病，但其中许多疾病的治疗选择有限。研究这些骨疾病面临的挑战源于缺乏合适的动物模型以及无法获得用于研究的骨骼组织。骨疾病骨骼异常的效应器可能是成骨细胞介导的异常骨形成或破骨细胞介导的异常骨吸收，或两者皆有。患者特异性诱导多能干细胞（iPSC）可从各种组织来源的体细胞生成，理论上可分化为任何所需的细胞类型。然而，将人iPSC成功分化为功能性骨细胞仍然是一项挑战。我们的团队专注于利用人iPSC（hiPSC）来识别颅骨骨干发育异常中的破骨细胞缺陷。在这篇综述中，我们描述了干细胞技术对更好地治疗此类疾病研究的影响、从患有罕见遗传性骨疾病的患者中生成hiPSC以及目前将hiPSC分化为破骨细胞的方案。
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