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

发布时间：2018-06-06 00:51

本文选题：Atpva + 表达定位　；参考：《中华耳科学杂志》2017年01期

【摘要】：目的常染色体隐性遗传远端肾小管酸中毒是一种严重的酸碱平衡紊乱性疾病,常常合并有感音神经性聋,ATP6V0A4被证实是其致病的相关基因,目前仍不明确致病机制。我们拟通过研究Atp6v0a4在不同发育阶段小鼠的内耳表达来探究ATP6V0A4在听觉系统形成中的作用。方法选择不同发育时期健康的昆明小鼠(E18,P1,P7,P14,P21),应用免疫荧光标记技术结合激光共聚焦显微镜观察Atp6v0a4蛋白在内耳的定位与表达。West-ern-blot定性定量研究该蛋白在不同时期小鼠内耳蛋白表达变化。结果 Atp6v0a4蛋白主要表达部位为耳蜗内毛细胞、外毛细胞、血管纹、内淋巴囊以及螺旋神经节,且在不同发育阶段表达位置稳定。Western-blot结果提示Atp6v0a4在小鼠内耳广泛表达,在不同发育阶段,Atp6v0a4在Corti’s器及螺旋神经节及血管纹中表达相对稳定,而在前庭组织中表达下降。结论通过对不同发育阶段的小鼠耳蜗切片进行Atp6v0a4蛋白表达分析研究,明确了Atp6v0a4在小鼠内耳的表达,为深入研究Atp6v0a4在内耳发育过程中的作用和致聋机制奠定了基础。
[Abstract]:Objective Autosomal recessive distal tubular acidosis is a serious disorder of acid-base balance, which is often associated with sensorineural deafness. We intend to explore the role of Atp6v0a4 in the formation of auditory system by studying the expression of Atp6v0a4 in the inner ear of mice at different developmental stages. Methods the location and expression of Atp6v0a4 protein in the inner ear of Kunming mice at different developmental stages were observed by immunofluorescence labeling technique and confocal laser microscope. The protein was detected qualitatively and quantitatively by West-ern-blot in mice at different stages. Changes of ear protein expression. Results Atp6v0a4 protein was mainly expressed in cochlear inner hair cells, outer hair cells, stria vascularis, endolymphatic sac and spiral ganglion. The results of Western-blot showed that Atp6v0a4 was widely expressed in mouse inner ear. The expression of Atp6v0a4 was relatively stable in Corti's organ, spiral ganglion and stria vascularis, but decreased in vestibular tissue. Conclusion by analyzing the expression of Atp6v0a4 protein in mouse cochlea slices at different developmental stages, the expression of Atp6v0a4 in mouse inner ear was clarified, which laid a foundation for further study of the role of Atp6v0a4 in the development of inner ear and the mechanism of deafness.
【作者单位】：南京医科大学附属儿童医院耳鼻咽喉-头颈外科;解放军总医院耳鼻咽喉头颈外科;
【基金】：国家自然科学基金面上项目(81371098) 北京市自然科学基金面上项目(7132177) 江苏省省级重点研发专项资金(BE2015608) 江苏省科教兴卫重点医学人才(RC2011028) 江苏省“333高层次人才培养工程”基金(2015) 江苏省六大人才高峰(2015-wsw-063)联合资助~~
【分类号】：R764.43;R726.9

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