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Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene.

التفاصيل البيبلوغرافية
العنوان: Otitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 gene.
المؤلفون: Cong Tian, Heping Yu, Bin Yang, Fengchan Han, Ye Zheng, Cynthia F Bartels, Deborah Schelling, James E Arnold, Peter C Scacheri, Qing Yin Zheng
المصدر: PLoS ONE, Vol 7, Iss 4, p e34944 (2012)
بيانات النشر: Public Library of Science (PLoS), 2012.
سنة النشر: 2012
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Medicine, Science
الوصف: Otitis media is a middle ear disease common in children under three years old. Otitis media can occur in normal individuals with no other symptoms or syndromes, but it is often seen in individuals clinically diagnosed with genetic diseases such as CHARGE syndrome, a complex genetic disease caused by mutation in the Chd7 gene and characterized by multiple birth defects. Although otitis media is common in human CHARGE syndrome patients, it has not been reported in mouse models of CHARGE syndrome. In this study, we report a mouse model with a spontaneous deletion mutation in the Chd7 gene and with chronic otitis media of early onset age accompanied by hearing loss. These mice also exhibit morphological alteration in the Eustachian tubes, dysregulation of epithelial proliferation, and decreased density of middle ear cilia. Gene expression profiling revealed up-regulation of Muc5ac, Muc5b and Tgf-β1 transcripts, the products of which are involved in mucin production and TGF pathway regulation. This is the first mouse model of CHARGE syndrome reported to show otitis media with effusion and it will be valuable for studying the etiology of otitis media and other symptoms in CHARGE syndrome.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1932-6203
Relation: http://europepmc.org/articles/PMC3335168?pdf=render; https://doaj.org/toc/1932-6203
DOI: 10.1371/journal.pone.0034944
URL الوصول: https://doaj.org/article/5cae9239c27d4b089d281e1c13adf042
رقم الأكسشن: edsdoj.5cae9239c27d4b089d281e1c13adf042
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:19326203
DOI:10.1371/journal.pone.0034944