Difference of Gene Expression in Venous Malformation

PURPOSE: Venous malformation(VM) which often causes pain and discomfort is the most common type of vascular malformations. Although it is presented with disfigured appearance and associated soft tissue or skeletal hypertrophy, the molecular bases of VMs are poorly understood. Differentially expressed genes(DEGs) of VMs were investigated to illuminate the molecular mechanism of the disease entity. METHODS: Gene expressions of VM patients' subcutaneous tissue were studied in comparison with normal persons' by GeneFishing(TM) technique using the annealing control primers (ACPs) to identify DEGs. Candidate genes were sequenced and screened by basic local alignment search tool (BLAST) afterwards. RESULTS: Among seventy DEGs identified, forty DEGs which had shown significantly different expression pattern were sequenced. Twenty eight out of 40 were up- regulated while 12 were down-regulated. BLAST searches revealed that 37 were known genes and 3 were unknown genes. Many genes were involved in the differentiation and remodeling of smooth muscle cells, opposed to the previous hypothesis that a lot of angiogenetic genes would be involved. Furthermore, several transcription factors and related genes, as well as cell signaling and metabolism regulators, were up regulated. CONCLUSION: It suggests that analysis of DEGs in VMs provide basic knowledge about its pathophysiology. and new therapeutic approaches.

Search for Differentially Expressed Genes in Preterm Human Placentae and Their Membranes by Annealing Control Primer System / 대한주산의학회잡지

OBJECTIVE: The aim of this study was to investigate the gene expression profiles using GeneFishingTM kit in human placentae and their membranes delivered at preterm caused by preterm labor. METHODS: Specimens were obtained from placenta, chorion, and amnion delivered at preterm and term, respectively. Total RNAs were isolated from each specimen. Thereafter, the profiles of expression genes between preterm and term specimens were compared using a new and accurate reverse transcription-polymerase chain reaction (RT-PCR) that involves annealing control primers (ACPs) to identify the genes expressed differentially and screened by basic local alignment search tool (BLAST) search. RESULTS: Using 20 ACPs, 13 differentially expressed genes (DEGs) were identified and sequenced. 7 of them were expressed up-regulation, while 6 were expressed down-regulation in preterm deliveries. A BLAST searches revealed that 11 were known genes and 2 were unknown genes. Among known genes, up-regulated genes were insulin-like growth factor II associated protein, vigilin, acyl-Coenzyme A dehydrogenase, tissue inhibitor of metalloproteinase 1 (TIMP1), ribosomal protein S26 (RPS26), follistatin-like 1 (FSTL1) and down-regulated genes were two mitochondrial DNAs, ribosomal protein S28 (RPS28), transglutaminase 2 (TGM2), heparin sulfate proteoglycan (HSPG, perlecan). CONCLUSION: This study shows that the ACP system is a good method for the identification of preterm-related genes. Furthermore, this study suggests that further analysis of the differentially expressed genes in preterm we have identified should provide insights into the molecular basis of preterm delivery caused by preterm labor.