Jamaluddin M Fairuz B, Ko Yi-An, Kumar Manish, Brown Yazmin, Bajwa Preety, Nagendra Prathima B, Skerrett-Byrne David A, Hondermarck Hubert, Baker Mark A, Dun Matt D, Scott Rodney J, Nahar Pravin, Tanwar Pradeep S
School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia.
School of Environmental and Life Sciences, University of Newcastle, Callaghan, New South Wales, Australia.
Endocrinology. 2018 Feb 1;159(2):1106-1118. doi: 10.1210/en.2017-03018.
The central characteristic of uterine fibroids is excessive deposition of extracellular matrix (ECM), which contributes to fibroid growth and bulk-type symptoms. Despite this, very little is known about patterns of ECM protein expression in fibroids and whether these are influenced by the most common genetic anomalies, which relate to MED12. We performed extensive genetic and proteomic analyses of clinically annotated fibroids and adjacent normal myometrium to identify the composition and expression patterns of ECM proteins in MED12 mutation-positive and mutation-negative uterine fibroids. Genetic sequencing of tissue samples revealed MED12 alterations in 39 of 65 fibroids (60%) from 14 patients. Using isobaric tagged-based quantitative mass spectrometry on three selected patients (n = 9 fibroids), we observed a common set of upregulated (>1.5-fold) and downregulated (<0.66-fold) proteins in small, medium, and large fibroid samples of annotated MED12 status. These two sets of upregulated and downregulated proteins were the same in all patients, regardless of variations in fibroid size and MED12 status. We then focused on one of the significant upregulated ECM proteins and confirmed the differential expression of periostin using western blotting and immunohistochemical analysis. Our study defined the proteome of uterine fibroids and identified that increased ECM protein expression, in particular periostin, is a hallmark of uterine fibroids regardless of MED12 mutation status. This study sets the foundation for further investigations to analyze the mechanisms regulating ECM overexpression and the functional role of upregulated ECM proteins in leiomyogenesis.
子宫肌瘤的核心特征是细胞外基质(ECM)过度沉积,这促进了肌瘤的生长及形成肿块型症状。尽管如此,对于肌瘤中ECM蛋白的表达模式以及这些模式是否受与MED12相关的最常见基因异常影响,我们知之甚少。我们对具有临床注释的肌瘤及相邻正常子宫肌层进行了广泛的基因和蛋白质组分析,以确定MED12突变阳性和突变阴性子宫肌瘤中ECM蛋白的组成和表达模式。组织样本的基因测序显示,14例患者的65个肌瘤中有39个(60%)存在MED12改变。通过对三名选定患者(n = 9个肌瘤)进行基于等压标记的定量质谱分析,我们在已注释MED12状态的小、中、大肌瘤样本中观察到一组共同的上调(>1.5倍)和下调(<0.66倍)蛋白。这两组上调和下调的蛋白在所有患者中都是相同的,与肌瘤大小和MED12状态的变化无关。然后,我们聚焦于一种显著上调的ECM蛋白,并通过蛋白质印迹和免疫组织化学分析证实了骨膜蛋白的差异表达。我们的研究确定了子宫肌瘤的蛋白质组,并发现ECM蛋白表达增加,尤其是骨膜蛋白,是子宫肌瘤的一个标志,与MED12突变状态无关。这项研究为进一步研究分析调节ECM过表达的机制以及上调的ECM蛋白在平滑肌瘤发生中的功能作用奠定了基础。