Golgi-canalicular reticulum system in ion transporting fibrocytes and outer sulcus epithelium of gerbil cochlea

Spicer, Samuel S.; Schulte, Bradley A.

doi:10.1002/(sici)1097-0185(199709)249:1<117::aid-ar14>3.0.co;2-s

Cited by 17 publications

(4 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A mouse multiple tissue northern blot was hybridized with this cloned fragment to determine its specificity and, in agreement with previous findings (Inoue et al 1998; (Spicer and Schulte 1997) a As far as we know, the presence of canalicular reticulum in mouse inner ear has not been studied yet. A species-specific probe was generated by cloning a 981-bp mouse WFS1 fragment.…”

Section: In Situ Hybridizationsupporting

confidence: 80%

“…It shows strong immunoreaction in some cell types, while it is very weakly expressed in others. It has been suggested by Spicer and Schulte (1997) that the canalicular reticulum is important in this K + recycling pathway. The canalicular reticulum is a specialized form of ER resembling the tubulocisternal ER which is present in some ion-transporting epithelia Rostgaard 1978, 1981;Rostgaard and Moller 1980;Baron et al 1984).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

Cryns

Thys

Laer

et al. 2003

Histochem Cell Biol

View full text Add to dashboard Cite

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.Keywords WFS1 · Inner ear · Immunohistochemistry · In situ hybridization · Canalicular reticulum Recessive mutations in the WFS1 gene also cause Wolfram syndrome, known by the acronym DIDMOAD to reflect the syndrome phenotype of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (Inoue et al. 1998;Strom et al. 1998). In contrast to the low frequency K. Cryns and S. Thys contributed equally K. Cryns · S. Thys · L. Van Laer · G. Van Camp ( ) )

show abstract

Section: In Situ Hybridizationsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

Cryns

Thys

Laer

et al. 2003

Histochem Cell Biol

View full text Add to dashboard Cite

show abstract

“…Once a variant occurs in WFS1, the negative regulation of a feedback loop in the ER stress signaling I-2 I-1 III-14 III-13 III-019 III-15 III-18 III-2 III-20 III-4 III-6 III-12 III-7 III-11 III-16 III-17 III-9 III-10 III-1 III-3 III-5 III-8 -3 II-1 II-3 II-2 II- [43,44]. In the inner ear, mutated WFS1 may alter intracellular Ca 2+ homeostasis [42], the recycling of K + back to the endolymph [45], and other endolymphatic ions. p.Gly674Trp is located in the ER lumenal domain.…”

Section: Discussionmentioning

confidence: 99%

“…Once a variant occurs in WFS1 , the negative regulation of a feedback loop in the ER stress signaling network disappears, resulting in the accumulation of misfolded and unfolded proteins, leading to cell death [ 43 , 44 ]. In the inner ear, mutated WFS1 may alter intracellular Ca 2+ homeostasis [ 42 ], the recycling of K + back to the endolymph [ 45 ], and other endolymphatic ions. p.Gly674Trp is located in the ER lumenal domain.…”

Section: Discussionmentioning

confidence: 99%

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

Sun

et al. 2021

BioMed Research International

View full text Add to dashboard Cite

Objective. Genetic variants in the WFS1 gene can cause Wolfram syndrome (WS) or autosomal dominant nonsyndromic low-frequency hearing loss (HL). This study is aimed at investigating the molecular basis of HL in an affected Chinese family and the genotype-phenotype correlation of WFS1 variants. Methods. The clinical phenotype of the five-generation Chinese family was characterized using audiological examinations and pedigree analysis. Target exome sequencing of 129 known deafness genes and bioinformatics analysis were performed among six patients and four normal subjects to screen suspected pathogenic variants. We built a complete WFS1 protein model to assess the potential effects of the variant on protein structure. Results. A novel heterozygous pathogenic variant NM_006005.3 c.2020G>T (p.Gly674Trp) was identified in the WFS1 gene, located in the C-terminal domain of the wolframin protein. We further showed that HL-related WFS1 missense variants were mainly concentrated in the endoplasmic reticulum (ER) domain. In contrast, WS-related missense variants are randomly distributed throughout the protein. Conclusions. In this family, we identified a novel variant p.Gly674Trp of WFS1 as the primary pathogenic variant causing the low-frequency sensorineural HL, enriching the mutational spectrum of the WFS1 gene.

show abstract

Novel membranous structures in apical and basal compartments of inner hair cells

1999

View full text Add to dashboard Cite

Golgi-canalicular reticulum system in ion transporting fibrocytes and outer sulcus epithelium of gerbil cochlea

Cited by 17 publications

References 28 publications

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype

Novel membranous structures in apical and basal compartments of inner hair cells

Contact Info

Product

Resources

About