Melnick Michael, Jaskoll Tina
Laboratory for Developmental Genetics, University of Southern California, Los Angeles, CA 90089, USA.
Birth Defects Res A Clin Mol Teratol. 2013 Feb;97(2):69-78. doi: 10.1002/bdra.23105. Epub 2012 Dec 26.
Congenital human cytomegalovirus (CMV) infection is the leading nongenetic etiology of sensorineural hearing loss (SNHL) at birth and prelingual SNHL not expressed at birth. The paucity of temporal bone autopsy specimens from infants with congenital CMV infection has hindered the critical correlation of histopathology with pathogenesis. Here, we present an in vitro embryonic mouse model of CMV-infected cochleas that mimics the human sites of viral infection and associated pathology. There is a striking dysplasia/hyperplasia in mouse CMV-infected cochlear epithelium and mesenchyme, including organ of Corti hair and supporting cells and stria vascularis. This is concomitant with significant dysregulation of p19, p21, p27, and Pcna gene expression, as well as proliferating cell nuclear antigen (PCNA) protein expression. Other pathologies similar to those arising from known deafness gene mutations include downregulation of KCNQ1 protein expression in the stria vascularis, as well as hypoplastic and dysmorphic melanocytes. Thus, this model provides a relevant and reliable platform within which the detailed cell and molecular biology of CMV-induced deafness may be studied.
先天性人类巨细胞病毒(CMV)感染是出生时感音神经性听力损失(SNHL)以及出生时未表现出的语前SNHL的主要非遗传病因。先天性CMV感染婴儿的颞骨尸检标本匮乏,这阻碍了组织病理学与发病机制之间的关键关联研究。在此,我们展示了一种CMV感染耳蜗的体外胚胎小鼠模型,该模型模拟了人类病毒感染部位及相关病理情况。在小鼠CMV感染的耳蜗上皮和间充质中,包括柯蒂氏器毛细胞和支持细胞以及血管纹,存在明显的发育异常/增生。这与p19、p21、p27和Pcna基因表达以及增殖细胞核抗原(PCNA)蛋白表达的显著失调相伴。其他类似于已知耳聋基因突变所引发的病理情况包括血管纹中KCNQ1蛋白表达下调,以及黑色素细胞发育不全和形态异常。因此,该模型提供了一个相关且可靠的平台,可在其中研究CMV诱导耳聋的详细细胞和分子生物学。