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Journal of the Korean Society of Plastic and Reconstructive Surgeons 2007;34(6):671-678.
Published online November 1, 2007.
Difference of Gene Expression in Venous Malformation.
Taek Kyun Kim, Eun Jung Oh, Byung Chae Cho, Ho Yun Chung
1Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University, Daegu, Korea. hy-chung@ mail.knu.ac.kr
2Department of Advanced Material Engineering, School of Engineering, Kyungpook National University, Daegu, Korea.
Abstract
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.
Keywords: Venous malformation; Differentially expressed genes(DEGs); GeneFishing(TM) technique; Annealing control primers(ACPs); Smooth muscle cell
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