Babeto Erica, De Freitas Calmon Marília, Scarin Provazzi Paola Jocelan, Colombo Jucimara, Cordeiro José Antônio, Bonilha Janes Lopes, Fernandes Atílio Maximino, Rahal Paula
Laboratory of Genomics Studies, São Paulo State University - UNESP, São José do Rio Preto, SP, Brazil.
Mol Med Rep. 2010 May-Jun;3(3):485-90. doi: 10.3892/mmr_00000285.
Nasal polyposis (NP) is a chronic inflammatory disease of the nasal mucosa characterized by the infiltration of inflammatory cells, mainly eosinophils. Although nasal polyposis occurs in 4% of the population, its physiopathology remains unclear. The aim of this study was to identify and characterize differentially expressed genes that can be used in the prognosis, treatment and elucidation of this physiopathology. To identify novel genes differentially expressed in NP, we applied real-time quantitative PCR to 11 NP samples and to a pool of total RNA from a subset of 13 normal nasal mucosa samples from human autopsies. For selecting genes, the methylated CpG island amplification technique was used. Five differentially methylated clones (ATP2A1, NOVA1, PLCD3, SOLH and TGFβI) were identified. However, these genes presented methylated CpG islands between exons, i.e., not in the promoter regions of the genes. Thus, as shown by real-time PCR, the ATP2A1, SOLH, PLDC3 and TGFβI genes were overexpressed in NP. The genes identified in this study are probably involved in some stage of the process of formation and development of nasal polyposis, as they were highly expressed in the nasal polyp samples.
鼻息肉病(NP)是一种鼻黏膜慢性炎症性疾病,其特征为炎症细胞浸润,主要是嗜酸性粒细胞。尽管4%的人群会发生鼻息肉病,但其病理生理学仍不清楚。本研究的目的是鉴定和表征可用于该疾病预后、治疗及病理生理学阐释的差异表达基因。为了鉴定鼻息肉病中差异表达的新基因,我们对11份鼻息肉病样本以及来自人类尸检的13份正常鼻黏膜样本子集的总RNA池进行了实时定量PCR。在选择基因时,使用了甲基化CpG岛扩增技术。鉴定出了5个差异甲基化克隆(ATP2A1、NOVA1、PLCD3、SOLH和TGFβI)。然而,这些基因的甲基化CpG岛位于外显子之间,即不在基因的启动子区域。因此,如实时PCR所示,ATP2A1、SOLH、PLDC3和TGFβI基因在鼻息肉病中过度表达。本研究中鉴定出的基因可能参与了鼻息肉形成和发展过程的某个阶段,因为它们在鼻息肉样本中高度表达。