Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss.
Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss.
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DOI：
10.1002/dneu.22279
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发表时间：
2015-11
影响因子：
3
通讯作者：
Lopes, Susana M. Chuva de Sousa
中科院分区：
文献类型：
--
作者：
Locher, Heiko;de Groot, John C. M. J.;van Iperen, Liesbeth;Huisman, Margriet A.;Frijns, Johan H. M.;Lopes, Susana M. Chuva de Sousa
感音神经性听力损失（SNHL）是人类最常见的先天性疾病之一，每千名新生儿中就有一名患有这种疾病。大多数是遗传性的，可以分为综合征和非综合征形式。人类胎儿耳蜗中受影响基因的表达谱的知识是有限的，并且由于许多导致SNHL的基因突变可能影响血管纹或耳蜗钾稳态（两者对听力至关重要），因此需要更好地了解该器官的胚胎发育以了解SNHL病因。我们对妊娠9 - 18周（W 9-W18）的人胎儿耳蜗中血管纹的发育进行了研究，并显示了关键钾调节蛋白的耳蜗表达动力学。W12时，MITF+/SOX 10 +/KIT+神经嵴来源的黑素细胞迁移到耳蜗中并穿透侧壁上皮的基底膜，发育成血管纹的中间细胞。这些黑素细胞与Na+/K+-ATP酶阳性边缘细胞紧密结合，这些细胞在W16开始在其顶膜中表达KCNQ 1。在W18，KCNJ 10和间隙连接蛋白GJB 2/CX 26和GJB 6/CX 30在外沟细胞中表达，而在螺旋韧带中不表达。最后，我们研究了GJA 1/CX 43和GJE 1/CX 23的表达，并表明GJE 1是一个潜在的新SNHL相关基因座。我们的研究有助于更好地了解人类耳蜗的发育，为多种形式的遗传性SNHL提供了更多的见解，并表明人类听力在妊娠晚期之前不会开始。© 2015威利期刊公司.开发神经生物学75：1219-1240，2015
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression profile of affected genes in the human fetal cochlea is limited, and as many of the gene mutations causing SNHL likely affect the stria vascularis or cochlear potassium homeostasis (both essential to hearing), a better insight into the embryological development of this organ is needed to understand SNHL etiologies. We present an investigation on the development of the stria vascularis in the human fetal cochlea between 9 and 18 weeks of gestation (W9–W18) and show the cochlear expression dynamics of key potassium‐regulating proteins. At W12, MITF+/SOX10+/KIT+ neural‐crest‐derived melanocytes migrated into the cochlea and penetrated the basement membrane of the lateral wall epithelium, developing into the intermediate cells of the stria vascularis. These melanocytes tightly integrated with Na+/K+‐ATPase‐positive marginal cells, which started to express KCNQ1 in their apical membrane at W16. At W18, KCNJ10 and gap junction proteins GJB2/CX26 and GJB6/CX30 were expressed in the cells in the outer sulcus, but not in the spiral ligament. Finally, we investigated GJA1/CX43 and GJE1/CX23 expression, and suggest that GJE1 presents a potential new SNHL associated locus. Our study helps to better understand human cochlear development, provides more insight into multiple forms of hereditary SNHL, and suggests that human hearing does not commence before the third trimester of pregnancy. © 2015 Wiley Periodicals, Inc. Develop Neurobiol 75: 1219–1240, 2015
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影响因子：
2.1
作者：
Bibas, A;Liang, J;Wright, A
通讯作者：
Wright, A
影响因子：
64.5
作者：
Adameyko, Igor;Lallemend, Francois;Ernfors, Patrik
通讯作者：
Ernfors, Patrik
影响因子：
3.6
作者：
Eckhard, Andreas;Gleiser, Corinna;Hirt, Bernhard
通讯作者：
Hirt, Bernhard
DOI：
10.1002/ar.22579
发表时间：
2012-11
期刊：
Anatomical record (Hoboken, N.J. : 2007)
影响因子：
--
作者：
Angeli S;Lin X;Liu XZ
通讯作者：
Liu XZ
影响因子：
158.5
作者：
del Castillo, I;Villamar, M;Moreno, F
通讯作者：
Moreno, F