Journal article
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
Histochemistry and cell biology, Vol.119(3), pp.247-256
03/2003
DOI: 10.1007/s00418-003-0495-6
PMID: 12649740
Abstract
Heterozygous mutations in the WFS1 gene are responsible for autosomal dominant low frequency hearing loss at the DFNA6/14 locus, while homozygous or compound heterozygous mutations underlie Wolfram syndrome. In this study we examine expression of wolframin, the WFS1-gene product, in mouse inner ear at different developmental stages using immunohistochemistry and in situ hybridization. Both techniques showed compatible results and indicated a clear expression in different cell types of the inner ear. Although there were observable developmental differences, no differences in staining pattern or gradients of expression were observed between the basal and apical parts of the cochlea. Double immunostaining with an endoplasmic reticulum marker confirmed that wolframin localizes to this organelle. A remarkable similarity was observed between cells expressing wolframin and the presence of canalicular reticulum, a specialized form of endoplasmic reticulum. The canalicular reticulum is believed to be involved in the transcellular movements of ions, an important process in the physiology of the inner ear. Although there is nothing currently known about the function of wolframin, our results suggest that it may play a role in inner ear ion homeostasis as maintained by the canalicular reticulum.
Details
- Title: Subtitle
- The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
- Creators
- Kim Cryns - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, BelgiumSofie Thys - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, BelgiumLut Van Laer - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, BelgiumYoshitomo Oka - Division of Molecular Metabolism and Diabetes, Department of Internal Medicine, Tohoku University Graduate School of Medicine, 980-8575, Seiryo-machi, Sendai, JapanMarkus Pfister - Department of Otolaryngology, University of Tübingen, Elfriede-Aulhornstrasse 5, 72076, Tübingen, GermanyLuc Van Nassauw - Laboratory of Cell Biology and Histology, University of Antwerp, Groenenborgerlaan 171, 2020, Antwerp, BelgiumRichard J. H Smith - Molecular Otolaryngology Research Laboratories, University of Iowa, 52242, Iowa City, Iowa, USAJean-Pierre Timmermans - Laboratory of Cell Biology and Histology, University of Antwerp, Groenenborgerlaan 171, 2020, Antwerp, BelgiumGuy Van Camp - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- Histochemistry and cell biology, Vol.119(3), pp.247-256
- DOI
- 10.1007/s00418-003-0495-6
- PMID
- 12649740
- NLM abbreviation
- Histochem Cell Biol
- ISSN
- 0948-6143
- eISSN
- 1432-119X
- Publisher
- Springer-Verlag; Berlin/Heidelberg
- Language
- English
- Date published
- 03/2003
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006317702771
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