期刊名称：ePlasty: Open Access Journal of Plastic and Reconstructive Surgery
印刷版ISSN：1937-5719
出版年度：2015
卷号：15
语种：English
出版社：Open Science Co. LLC
摘要：Objective:Craniosynostosis is a premature fusion of 1 or more cranial sutures. It may occur with additional morphological abnormalities (syndromic) or in isolation. Studies suggest that dysregulation of normal cell proliferation, differentiation, and migration has a role in isolated or nonsyndromic craniosynostosis but the molecular mechanisms remain unknown. The aim of this research is to identify genes differentially expressed in prematurely fused human suture compared to patent suture in nonsyndromic craniosynostosis.Methods:Bone fragments from synostosed and patent sutures of 7 infants with nonsyndromic craniosynostosis were collected during surgical release of fused sutures. RNA was isolated from the fragments (7 patent and 7 fused) and global gene expression profiled using the Illumina WGE-DASL assay and HumanRef 8.0 Beadchip.Results:Comparison of mRNA expression in fused and patent suture identified 68 genes significantly differentially expressed and having fold changes ≤ −2.0 and ≥ 2.0 with a false discovery rate adjustedPvalue at .10 and 136 with adjustedPvalue of 0.15.SFRP2(secreted frizzled-related protein 2) demonstrated the largest decrease in fused sutures. Analysis including only sagittal fused sutures revealed a set of 35 overlapping genes that may be involved in suture patency over all suture types.SPHKAP(sphingosine kinase type 1-interacting protein), a modulator ofTGFβsignaling, was significant in the sagittal subset.Conclusion:Differentially expressed genes were identified in fused suture relative to patent in a nonsyndromic craniosynostosis population.SFRP2is likely important in suture patency. Genes having significant roles in osteoblastogenesis as negative regulators of canonical Wnt pathway were significantly downregulated.
