Microarray Analysis of Extracranial Arteriovenous Malformation Endothelial Cells

Joon Seok Lee (Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University, Daegu, Korea)
Ho Yun Chung (Department of Plastic and Reconstructive Surgery, School of Medicine, Kyungpook National University, Daegu, Korea)

Eun Jung Oh
Hyun Mi Kim
Suin Kwak
Seok-Jong Lee
Jongmin Lee
Seung Huh
Ji Yoon Kim

Lee, J. S., Chung, H. Y., Oh, E. J., Kim, H. M., Kwak, S., Lee, S., Lee, J., Huh, S., & Kim, J. Y. (2022). . 유전의학융합학술지, 4(2), 31-34, https://doi.org/10.22742/JIG.2022.4.2.31

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Abstract

Background: Arteriovenous malformations (AVMs) are rare diseases comprising abnormally dilated arteries and veins with an absence of a capillary network. Since these diseases are intractable after diagnosis, various treatment strategies have been examined, with continuous efforts to identify target genes. Here, we report relevant new target genes selected via gene microarray. Patients and methods: Endothelial cells were isolated from samples collected from three patients with AVM and three healthy individuals, followed by microarray analysis. Additionally, quantitative PCR was performed to select genes highly relevant to AVM. Results: In the vascular endothelial cells derived from the tissues of patients with AVM, the expression of ANGPT1, ANGPT2, DLL4, IL6, NRG1, TGFBR1 and VEGFA was typically higher compared to those derived from normal tissues. Conclusions: Seven candidate genes were selected to analyze the pathophysiological mechanism of AVM. These results may aid in future directions of diagnosis and treatment.

keywords: Arteriovenous malformations, Microarray, Vascular malformation

투고일Submission Date: 2022-10-01

수정일Revised Date: 2022-10-11

게재확정일Accepted Date: 2022-10-13

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논문 상세

Vol.4 No.2

Microarray Analysis of Extracranial Arteriovenous Malformation Endothelial Cells

Abstract

유전의학융합학술지