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来自基因和临床特征各异的颅缝早闭症的成骨细胞增殖减少且分化改变。

Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders.

作者信息

Fragale A, Tartaglia M, Bernardini S, Di Stasi A M, Di Rocco C, Velardi F, Teti A, Battaglia P A, Migliaccio S

机构信息

Laboratorio di Biologia Cellulare, Istituto Superiore di Sanità, Rome, Italy.

出版信息

Am J Pathol. 1999 May;154(5):1465-77. doi: 10.1016/S0002-9440(10)65401-6.

Abstract

Craniosynostoses are a heterogeneous group of disorders characterized by premature fusion of cranial sutures. Mutations in fibroblast growth factor receptors (FGFRs) have been associated with a number of such conditions. Nevertheless, the cellular mechanism(s) involved remain unknown. We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts. Osteoblasts from craniosynostotic patients exhibited a lower proliferation rate than control osteoblasts. P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes. By contrast, the low proliferation rate of C342R osteoblasts was not associated with a differentiated phenotype. Although they showed higher alkaline phosphatase activity than control, C342R osteoblasts failed to mineralize and expressed low levels of osteopontin and osteonectin and high protein kinase Czeta levels. Stimulation of proliferation and inhibition of differentiation were observed in all cultures on FGF2 treatment. Our results suggest that an anticipated proliferative/differentiative switch, associated with alterations of the FGFR transduction pathways, could be the causative common feature in craniosynostosis and that mutations in distinct FGFR2 domains are associated with an in vitro heterogeneous differentiative phenotype.

摘要

颅缝早闭是一组异质性疾病,其特征为颅缝过早融合。成纤维细胞生长因子受体(FGFRs)的突变与许多此类疾病有关。然而,其中涉及的细胞机制仍不清楚。我们分析了来自三名具有不同遗传和临床特征的颅缝早闭患者的成骨细胞的细胞增殖和分化情况:携带FGFR2 C342R替代突变的 Pfeiffer 综合征、具有 FGFR2 P253R 突变的 Apert 综合征,以及无 FGFR 典型突变的非综合征性颅缝早闭,并与对照成骨细胞进行比较。颅缝早闭患者的成骨细胞增殖率低于对照成骨细胞。P253R 和非综合征性颅缝早闭的成骨细胞表现出明显的分化表型,其特征为碱性磷酸酶活性高、矿化增加以及非胶原蛋白基质蛋白的表达,这与蛋白激酶 Cα和蛋白激酶 Cε同工酶的高表达和激活有关。相比之下,C342R 成骨细胞的低增殖率与分化表型无关。尽管它们的碱性磷酸酶活性高于对照,但 C342R 成骨细胞未能矿化,骨桥蛋白和骨连接蛋白表达水平低,蛋白激酶 Cζ水平高。在所有培养物中,FGF2 处理均观察到增殖刺激和分化抑制。我们的结果表明,与 FGFR 转导途径改变相关的预期增殖/分化转换可能是颅缝早闭的共同致病特征,并且不同 FGFR2 结构域的突变与体外异质性分化表型相关。

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