Wangemann Philine
Anatomy & Physiology Department, Kansas State University, Manhattan, Kansas 66506, USA.
Cell Physiol Biochem. 2011;28(3):527-34. doi: 10.1159/000335113. Epub 2011 Nov 18.
Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in children with sensorineural hearing loss that is frequently associated with loss-of-function or hypo-function mutations of SLC26A4. SLC26A4 codes for pendrin, which is a protein that is expressed in apical membranes of selected epithelia and functions as an anion exchanger. The comparatively high prevalence of EVA provides a strong imperative to develop rational interventions that delay, ameliorate or prevent hearing loss associated with this phenotype. The development of rational interventions requires a fundamental understanding of the role that pendrin plays in the normal development of hearing, as well as a detailed understanding of the pathobiologic mechanisms that, in the absence of fully functional pendrin, lead to an unstable hearing phenotype, with fluctuating or progressive loss of hearing. This review summarizes studies in mouse models that have focused on delineating the role of pendrin in the physiology of the inner ear and the pathobiology that leads to hearing loss.
前庭导水管扩大（EVA）是感音神经性听力损失儿童中常见的内耳畸形，常与SLC26A4功能丧失或功能减退突变相关。SLC26A4编码pendrin，pendrin是一种在特定上皮细胞顶膜表达的蛋白质，作为阴离子交换器发挥作用。EVA相对较高的患病率迫切需要开发合理的干预措施，以延缓、改善或预防与该表型相关的听力损失。合理干预措施的开发需要从根本上了解pendrin在听力正常发育中的作用，以及详细了解在缺乏功能完全正常的pendrin时导致听力表型不稳定、听力波动或渐进性丧失的病理生物学机制。本综述总结了小鼠模型中的研究，这些研究专注于阐明pendrin在内耳生理学中的作用以及导致听力损失的病理生物学。
