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Published on: March 29, 2021
The role of pendrin in the development of the murine inner ear
1Anatomy & Physiology Department, Kansas State University, Manhattan, Kansas 66506, USA. wange@vet.ksu.edu
Insights
Enlargement of the vestibular aqueduct (EVA), linked to SLC26A4 mutations, causes hearing loss. Mouse models reveal pendrin
Area of Science:
- Genetics and Molecular Biology
- Otolaryngology
- Developmental Biology
Background:
- Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation in children with sensorineural hearing loss.
- EVA is frequently associated with mutations in the SLC26A4 gene, which encodes the pendrin protein.
- Pendrin functions as an anion exchanger in epithelial cells and is crucial for normal inner ear development.
Purpose of the Study:
- To understand pendrin's role in normal hearing development.
- To elucidate the pathobiologic mechanisms leading to hearing loss in EVA.
- To inform the development of interventions for EVA-associated hearing loss.
Main Methods:
- Review of studies utilizing mouse models of EVA.
- Analysis of research on pendrin's function in inner ear physiology.
- Investigation of pathobiology underlying hearing instability in the absence of functional pendrin.
Main Results:
- Studies in mouse models have delineated pendrin's physiological role in the inner ear.
- These models have shed light on the pathobiologic pathways contributing to hearing loss in EVA.
- Understanding these mechanisms is key to addressing fluctuating or progressive hearing loss.
Conclusions:
- Pendrin is essential for normal inner ear development and hearing.
- Dysfunctional pendrin due to SLC26A4 mutations leads to EVA and hearing impairment.
- Further research in mouse models can guide therapeutic strategies for EVA.
Abstract:
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.
