Reports on molecular medicine findings from University of Sao Paulo provide new insights
2007 NOV 20 -- According to recent research from Sao Paulo, Brazil, "Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant go in-of-function mutations in FGFR2. Because the periosteurn contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage." "To delineate the gene expression profile involved in this abnormal behavior, we performed a global gene expression analysis of coronal suture periosteal cells from seven AS patients (p.Ser252Trp), and matched controls. We identified 263 genes with significantly altered expression in AS samples (118 upregulated, 145 downregulated; SNR >= 10.4 1, P<= 0.05). Several upregulated genes are involved in positive regulation of cell proliferation and nucleotide metabolism, whereas several downregulated genes are involved in inhibition of cell proliferation, gene expression regulation, cell adhesion, and extracellular matrix organization, and in PIK3-MAPK cascades," wrote R.D. Fanganiello and colleagues, University of Sao Paulo. The researchers concluded: "AS expression profile was confirmed through real-time PCR of a selected set of genes using RNAs from AS and control cells as well as from control cells treated with high FGF2 concentration, and through the analysis of genes involved in FGF-FGFR signaling." Fanganiello and colleagues published their study in Molecular Medicine (Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells. Molecular Medicine, 2007;13(7-8):422-442). For additional information, contact R.D. Fanganiello, University of Sao Paulo, Institute Biociencias, Dept. of Genetics & Biology Evolutiva, Rua Matao 277, BR-05508 Sao Paulo, SP, Brazil. Publisher contact information for the journal Molecular Medicine is: Feinstein Institute Med Research, 350 Community Dr., Manhasset, NY 11030, USA. Keywords: Brazil, Sao Paulo, Molecular Medicine, University of Sao Paulo. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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