中华耳科学杂志2017，Vol.15Issue(1)：88-93,6.DOI:10.3969/j.issn.1672-2922.2017.01.018
遗传性远端肾小管性酸中毒合并耳聋相关基因Atp6v0a4在小鼠内耳发育过程中的表达
The expression of a combined distal renal tubular acidosis(dRTA)-deafness related gene ATP6V0A4 in developing inner ears of the mice
摘要
Abstract
Objective Autosomal recessive distal renal tubular acidosis (dRTA), a severe disorder of acid–base homeostasis, is often accompanied by sensorineural deafness. The ATP6V0A4 is considered as the causative gene;how-ever, it is unknown how this gene causes the diseases. This study aims to investigate the expression of ATP6V0A4 in the mice inner ear at different stages of development. Methods Kunming mice at different developmental stages (Embryo 18, Postnatal 1, Postnatal 7, Postnatal 14, Postnatal 21) were used. The expression of Atp6v0a4 in the mice inner ear was analyzed using combined techniques of immunohistochemistry and immunofluorescence under confocal laser scan-ning microscopy. In addition, western-blot was used to analyze the expression of Atp6v0a4 quantitatively and qualita-tively in mice inner ear. Results Atp6v0a4 was steadily expressed in the inner and outer hair cells, stria vascularis, spi-ral ganglion, and endolymphatic sac during the inner ear development, as shown by confocal laser scanning microscopy. The western-blot showed that the expression of Atp6v0a4 is relatively stable in the organ of Corti, spiral ganglion, andstria vascularis, while the expression of Atp6v0a4 in vestibule decreased during inner ear development. Conclusions Ex-pression and localization of Atp6v0a4 in the mice inner ear at different developmental stages are demonstrated. This study may pave the way for further investigation in the Atp6v0a4 related deafness mechanisms.关键词
Atp6v0a4/表达定位/内耳Key words
Atp6v0a4/Expression and localization/Inner ear分类
医药卫生引用本文复制引用
刘亚青,李琦,辛凤,袁永一..遗传性远端肾小管性酸中毒合并耳聋相关基因Atp6v0a4在小鼠内耳发育过程中的表达[J].中华耳科学杂志,2017,15(1):88-93,6.基金项目
国家自然科学基金面上项目(81371098) （81371098）
北京市自然科学基金面上项目(7132177) （7132177）
江苏省省级重点研发专项资金(BE2015608) （BE2015608）
江苏省科教兴卫重点医学人才(RC2011028) （RC2011028）
江苏省"333高层次人才培养工程"基金(2015) （2015）
江苏省六大人才高峰(2015-wsw-063)联合资助 The National Natural Science Foundation of China (81371098) （2015-wsw-063）
Project of Natural Science Foundation of Beijing (7132177) （7132177）
Jiangsu provincial key research and development of special funds (BE2015608) （BE2015608）
Science and education in Jiangsu province key medical personnel (RC2011028) （RC2011028）
Jiangsu Province,"the 333 high-level personnel training project"fund (2015) （2015）
The peak of six tal-ents in Jiangsu Province(2015-wsw-063). （2015-wsw-063）
