Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.
Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.
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DOI：
10.1016/j.heares.2011.05.009
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发表时间：
2011-11
期刊：
影响因子：
2.8
通讯作者：
Wangemann, Philine
中科院分区：
文献类型：
--
作者：
Griffith, Andrew J.;Wangemann, Philine
前庭导水管封闭（伊娃）是儿童感音神经性听力损失最常见的内耳畸形之一。这种表型的延迟发作和进展性质为预防或延缓听力损失的进展提供了机会。伊娃不是这些患者听力损失的直接原因，而是一些潜在的病理缺陷的放射学标记。SLC 26 A4基因突变是伊娃的常见原因。对Slc26a4基因敲除小鼠的研究表明，中阶的扩大是耳聋发病机制中的关键事件。前庭迷路内的液体分泌和胚胎内淋巴囊内液体吸收的失败导致了这种扩大。阐明听力损失的机制可能为潜在的治疗策略提供线索。
Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear malformations associated with sensorineural hearing loss in children. The delayed onset and progressive nature of this phenotype offer a window of opportunity to prevent or retard progression of hearing loss. EVA is not the direct cause of hearing loss in these patients, but rather is a radiologic marker for some underlying pathogenetic defect. Mutations of the SLC26A4 gene are a common cause of EVA. Studies of an Slc26a4 knockout mouse demonstrate that enlargement of the scala media is a key event in the pathogenesis of deafness. The enlargement is driven by fluid secretion in the vestibular labyrinth and a failure of fluid absorption in the embryonic endolymphatic sac. Elucidating the mechanism of hearing loss may offer clues to potential therapeutic strategies.
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影响因子：
64.8
作者：
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通讯作者：
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