Stem cells isolated from patients with rare diseases are important to elucidate their pathogeny and mechanisms to enable regenerative therapy. However, the mechanisms underlying tissue regeneration using patient‐derived dental pulp stem cells (DPSCs) are unclear. In this study, we investigated the levels of mRNA and protein expression related to cellular differentiation of Crouzon syndrome patient‐derived DPSCs (CS‐DPSCs) with a Gly338Arg fibroblast growth factor receptor 2 mutation. Multipotency‐related gene expression levels were equivalent in both healthy donor DPSCs and CS‐DPSCs. CS‐DPSCs showed higher osteocalcin (OCN) expression than healthy donor DPSCs. CS‐DPSCs showed a lower increase in the rate of OCN expression among phorbol 12‐myristate 13‐acetate (PMA)‐treated cells than healthy donor DPSCs compared with untreated control cells. CS‐DPSCs showed a lower phosphorylation rate of p38 and p44/42 in PMA‐treated cells than healthy donor DPSCs compared with untreated control cells. These results demonstrate that CS‐DPSCs have higher OCN expression and lower PMA stimulation‐responsiveness than healthy donor DPSCs.

中文翻译：

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从诊断为 Crouzon 综合征的患者中分离出的牙髓干细胞的表征

从患有罕见疾病的患者身上分离出的干细胞对于阐明其发病机制和实现再生治疗的机制非常重要。然而，使用患者来源的牙髓干细胞（DPSCs）进行组织再生的机制尚不清楚。在这项研究中，我们研究了与具有 Gly338Arg 成纤维细胞生长因子受体 2 突变的 Crouzon 综合征患者来源的 DPSCs (CS-DPSCs) 的细胞分化相关的 mRNA 和蛋白质表达水平。在健康供体 DPSC 和 CS-DPSC 中，多能相关基因表达水平相当。CS-DPSCs 显示出比健康供体 DPSCs更高的骨钙素( OCN ) 表达。CS-DPSCs 的OCN增加率较低佛波醇 12-肉豆蔻酸酯 13-乙酸酯 (PMA) 处理的细胞与健康供体 DPSC 相比，与未处理的对照细胞相比，表达的差异。与未处理的对照细胞相比，CS-DPSCs 在 PMA 处理的细胞中显示出比健康供体 DPSC 更低的 p38 和 p44/42 磷酸化率。这些结果表明，与健康供体 DPSCs 相比，CS-DPSCs 具有更高的OCN表达和更低的 PMA 刺激反应性。