Departments of Neurology and Developmental Medicine, Hugo Moser Kennedy Krieger Research Institute, Baltimore, MD, USA.
Arch Dermatol Res. 2012 Apr;304(3):229-35. doi: 10.1007/s00403-012-1210-z. Epub 2012 Mar 10.
Sturge-Weber syndrome (SWS) is defined by vascular malformations of the face, eye and brain and an underlying somatic mutation has been hypothesized. We employed isobaric tags for relative and absolute quantification (iTRAQ-8plex)-based liquid chromatography interfaced with tandem mass spectrometry (LC-MS/MS) approach to identify differentially expressed proteins between port-wine-derived and normal skin-derived fibroblasts of four individuals with SWS. Proteins were identified that were significantly up- or down-regulated (i.e., ratios >1.2 or <0.8) in two or three pairs of samples (n = 31/972 quantified proteins) and their associated p values reported. Ingenuity pathway analysis (IPA) tool showed that the up-regulated proteins were associated with pathways that enhance cell proliferation; down-regulated proteins were associated with suppression of cell proliferation. The significant toxicologic list pathway in all four observations was oxidative stress mediated by Nrf2. This proteomics study highlights oxidative stress also consistent with a possible mutation in the RASA1 gene or pathway in SWS.
斯特奇-韦伯综合征（SWS）的特征是面部、眼部和脑部的血管畸形，并且据推测存在潜在的体细胞突变。我们采用基于等重同位素标签相对和绝对定量（iTRAQ-8plex）的液相色谱-串联质谱联用（LC-MS/MS）方法，鉴定了来自 4 名 SWS 患者的葡萄酒色斑衍生和正常皮肤衍生成纤维细胞之间的差异表达蛋白。在两对或三对样本（n = 31/972 定量蛋白）中鉴定出显著上调或下调的蛋白（即比值 >1.2 或 <0.8），并报告了其相关的 p 值。IPA 工具显示，上调的蛋白与促进细胞增殖的途径相关；下调的蛋白与抑制细胞增殖的途径相关。在所有 4 个观察结果中，显著的毒理学列表途径都是由 Nrf2 介导的氧化应激。这项蛋白质组学研究强调了氧化应激也与 SWS 中 RASA1 基因或途径的可能突变一致。
